ClinVar Genomic variation as it relates to human health
NM_001613.4(ACTA2):c.536G>A (p.Arg179His)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_001613.4(ACTA2):c.536G>A (p.Arg179His)
Variation ID: 29598 Accession: VCV000029598.93
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 10q23.31 10: 88941309 (GRCh38) [ NCBI UCSC ] 10: 90701066 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Jan 7, 2017 Mar 16, 2024 Dec 11, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001613.4:c.536G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001604.1:p.Arg179His missense NM_001141945.3:c.536G>A NP_001135417.1:p.Arg179His missense NM_001320855.2:c.536G>A NP_001307784.1:p.Arg179His missense NM_001406462.1:c.536G>A NP_001393391.1:p.Arg179His missense NM_001406463.1:c.536G>A NP_001393392.1:p.Arg179His missense NM_001406464.1:c.536G>A NP_001393393.1:p.Arg179His missense NM_001406466.1:c.425G>A NP_001393395.1:p.Arg142His missense NM_001406467.1:c.407G>A NP_001393396.1:p.Arg136His missense NM_001406468.1:c.407G>A NP_001393397.1:p.Arg136His missense NM_001406469.1:c.407G>A NP_001393398.1:p.Arg136His missense NM_001406471.1:c.536G>A NP_001393400.1:p.Arg179His missense NC_000010.11:g.88941309C>T NC_000010.10:g.90701066C>T NG_011541.1:g.55082G>A LRG_781:g.55082G>A LRG_781t1:c.536G>A LRG_781p1:p.Arg179His LRG_781t2:c.536G>A LRG_781p2:p.Arg179His P62736:p.Arg179His - Protein change
- R179H, R142H, R136H
- Other names
- p.R179H:CGT>CAT
- Canonical SPDI
- NC_000010.11:88941308:C:T
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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ACTA2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
312 | 578 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (5) |
criteria provided, multiple submitters, no conflicts
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May 14, 2022 | RCV000022437.55 | |
Pathogenic (2) |
criteria provided, single submitter
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- | RCV000022438.46 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Jan 13, 2020 | RCV000181023.19 | |
Pathogenic (3) |
criteria provided, single submitter
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Mar 31, 2021 | RCV000211886.17 | |
Pathogenic (1) |
criteria provided, single submitter
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Oct 30, 2023 | RCV000228180.18 | |
Pathogenic (1) |
no assertion criteria provided
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Jun 9, 2016 | RCV000415107.11 | |
Pathogenic (1) |
criteria provided, single submitter
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Oct 31, 2018 | RCV000763224.10 | |
Pathogenic (1) |
criteria provided, single submitter
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Dec 11, 2023 | RCV003904860.1 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Sep 28, 2011)
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criteria provided, single submitter
Method: clinical testing
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Familial thoracic aortic aneurysm and aortic dissection
Affected status: not provided
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000060853.5
First in ClinVar: May 03, 2013 Last updated: Dec 19, 2017 |
Comment:
The Arg179His variant in ACTA2 gene has been reported in the literature in six i ndividuals with multisystemic smooth muscle dysfunction. Five of these individua … (more)
The Arg179His variant in ACTA2 gene has been reported in the literature in six i ndividuals with multisystemic smooth muscle dysfunction. Five of these individua ls were found to have a novel syndrome characterized by aortic and cerebrovascul ar disease, fixed dilated pupils, hypotonic bladder, malrotation and hypoperista lsis of the gut, and pulmonary hypertension (Milewicz 2010). The remaining indiv idual was found amongst a cerebrovascular cohort of patients with a diagnosis of Moyamoya Disease (Roder 2011). This particular variant was absent from at least 136 control chromosomes tested (Roder 2011). Heterozygous missense variants in ACTA2 are associated with a variety of cerebrovascular abnormalities including a neurysms and dissections of the thoracic aorta, early onset coronary artery dise ase and strokes, and show extensive familial segregation (Guo 2009). However, in five of six probands the variant was demonstrated to occur de novo (Milewicz 20 10) and in the remaining proband there was no family history of a vascular disor der (Roder 2011). In summary, this variant is highly likely to be pathogenic. (less)
Number of individuals with the variant: 1
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Pathogenic
(Jun 10, 2020)
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criteria provided, single submitter
Method: clinical testing
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Multisystemic smooth muscle dysfunction syndrome
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
de novo,
germline
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Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
Accession: SCV001149664.2
First in ClinVar: Feb 03, 2020 Last updated: Aug 20, 2020 |
Observation 1:
Clinical Features:
Recurrent urinary tract infections (present) , Atrial septal defect (present) , Hydroureter (present) , Splenic cyst (present) , Nephrocalcinosis (present)
Sex: female
Tissue: blood
Observation 2:
Clinical Features:
Microcephaly (present) , Atrial septal defect, ostium secundum type (present) , Global developmental delay (present) , Megacystis (present) , Developmental dysplasia of the hip (present) … (more)
Microcephaly (present) , Atrial septal defect, ostium secundum type (present) , Global developmental delay (present) , Megacystis (present) , Developmental dysplasia of the hip (present) , Patent ductus arteriosus (present) (less)
Sex: female
Tissue: blood
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Pathogenic
(May 14, 2022)
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criteria provided, single submitter
Method: clinical testing
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Multisystemic smooth muscle dysfunction syndrome
Affected status: yes
Allele origin:
unknown
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Institute of Medical Genetics, University of Zurich
Accession: SCV002569049.2
First in ClinVar: Feb 13, 2023 Last updated: Nov 11, 2023 |
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Pathogenic
(Mar 16, 2017)
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criteria provided, single submitter
Method: clinical testing
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Familial thoracic aortic aneurysm and aortic dissection
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV000318100.6
First in ClinVar: Oct 02, 2016 Last updated: Nov 29, 2022 |
Comment:
The p.R179H pathogenic mutation (also known as c.536G>A), located in coding exon 5 of the ACTA2 gene, results from a G to A substitution at … (more)
The p.R179H pathogenic mutation (also known as c.536G>A), located in coding exon 5 of the ACTA2 gene, results from a G to A substitution at nucleotide position 536. The arginine at codon 179 is replaced by histidine, an amino acid with highly similar properties. This well-characterized mutation has been detected in numerous patients with multisystem smooth muscle dysfunction syndrome (MSMDS), with a likely de novo origin in at least 9 of the individuals (e.g., Milewicz DM et al. Am J Med Genet A. 2010;152A(10):2437-2443; Roder C et al. Eur J Paediatr Neurol. 2011;15(2): 117-122; Munot P et al. Brain. 2012;135:2506-14; Richer J et al. Am J Med Genet A. 2012;158(3): 664-668; Roulez FM et al. J Neuroophthalmol. 2014;34:137-43; Yetman AT et al. Pediatrics. 2015;136:e262-6). The equivalent mutation in zebrafish causes cardiac dysfunction in homozygotes and some heterozygotes, and in vitro functional studies suggest that this mutation causes defects in actin nucleation and polymerization (Bartman T et al. PLoS Biol. 2004;2:E129; Lu H et al. J. Biol. Chem. 2016;291:21729-21739). In addition, two other likely pathogenic alterations, p.R179C and p.R179L, have been described in the same codon (Munot P et al. Brain. 2012;135:2506-14; Meuwissen ME et al. Am. J. Med. Genet. A, 2013 Jun;161A:1376-80). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation. (less)
Number of individuals with the variant: 1
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Pathogenic
(Sep 01, 2017)
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criteria provided, single submitter
Method: clinical testing
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Multisystemic smooth muscle dysfunction syndrome
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
de novo
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Baylor Genetics
Accession: SCV000807328.2
First in ClinVar: Oct 30, 2017 Last updated: Dec 11, 2022 |
Comment:
This mutation has been described in the literature as disease-causing and has been identified twice in our laboratory as a de novo mutation. Once in … (more)
This mutation has been described in the literature as disease-causing and has been identified twice in our laboratory as a de novo mutation. Once in a 9-month-old female with mild delays, hypotonia, microcephaly, iridial dysplasia, mild aortic stenosis, PDA, neurogenic bladder, and loose skin on abdomen. Once in a 3-year-old female with global delays, hypertonia, seizures, structural brain abnormalities, and aorto-pulmonary window. (less)
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Pathogenic
(Oct 30, 2023)
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criteria provided, single submitter
Method: clinical testing
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Aortic aneurysm, familial thoracic 6
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000287174.9
First in ClinVar: Jul 01, 2016 Last updated: Feb 14, 2024 |
Comment:
This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 179 of the ACTA2 protein (p.Arg179His). … (more)
This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 179 of the ACTA2 protein (p.Arg179His). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with multisystemic smooth muscle dysfunction syndrome (PMID: 20734336, 22302747, 22752479, 22946110, 24293535, 24621862, 24998021, 25944730, 26034244). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 29598). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ACTA2 protein function with a negative predictive value of 80%. For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Dec 11, 2023)
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criteria provided, single submitter
Method: clinical testing
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ACTA2-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV004719068.1
First in ClinVar: Mar 16, 2024 Last updated: Mar 16, 2024 |
Comment:
The ACTA2 c.536G>A variant is predicted to result in the amino acid substitution p.Arg179His. This variant was reported to have occurred de novo in numerous … (more)
The ACTA2 c.536G>A variant is predicted to result in the amino acid substitution p.Arg179His. This variant was reported to have occurred de novo in numerous individuals with multisystem smooth muscle dysfunction syndrome (Milewicz et al. 2010. PubMed ID: 20734336; Regalado et al. 2018. PubMed ID: 29300374). Functional studies showed that this variant results in severe polymerization defects (Lu et al. 2016. PubMed ID: 27551047). This variant has not been reported in a large population database, indicating this variant is rare. Different nucleotide substitutions affecting the same amino acid (p.Arg179Ser, p.Arg179Cys, p.Arg179Leu) have been reported to be disease causing (Regalado et al. 2018. PubMed ID: 29300374). Taken together, the c.536G>A (p.Arg179His) variant is interpreted as pathogenic. (less)
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Pathogenic
(Oct 31, 2018)
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criteria provided, single submitter
Method: clinical testing
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Aortic aneurysm, familial thoracic 6
Multisystemic smooth muscle dysfunction syndrome Moyamoya disease 5
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV000893851.1
First in ClinVar: Mar 31, 2019 Last updated: Mar 31, 2019 |
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Pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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Moyamoya disease 5
Affected status: yes
Allele origin:
germline
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Centogene AG - the Rare Disease Company
Accession: SCV001426448.1
First in ClinVar: Aug 08, 2020 Last updated: Aug 08, 2020 |
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Pathogenic
(Mar 31, 2021)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000233298.11
First in ClinVar: Jul 05, 2015 Last updated: Apr 17, 2019 |
Comment:
Not observed in large population cohorts (Lek et al., 2016); Published functional studies demonstrated this variant results in severe polymerization defects, and smooth muscle myosin … (more)
Not observed in large population cohorts (Lek et al., 2016); Published functional studies demonstrated this variant results in severe polymerization defects, and smooth muscle myosin moved R179H filaments more slowly than wild-type, even when copolymerized with equimolar amounts of wild-type actin (Lu et al., 2006); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 24293535, 24998021, 27567161, 25326635, 22946110, 24621862, 20734336, 22752479, 26034244, 28343608, 28328125, 25944730, 27551047, 26637293, 20970362, 22831780, 22302747, 19409525, 25759435, 13129918, 27481187, 29300374, 30300893, 28152038, 29875232, 23613326, 31911919, 32452246, 32369273) (less)
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Pathogenic
(Jan 13, 2020)
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criteria provided, single submitter
Method: clinical testing
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Familial thoracic aortic aneurysm and aortic dissection
Affected status: unknown
Allele origin:
germline
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CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
Accession: SCV002042323.1
First in ClinVar: Jan 01, 2022 Last updated: Jan 01, 2022 |
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Pathogenic
(Feb 02, 2022)
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criteria provided, single submitter
Method: clinical testing
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Multisystemic smooth muscle dysfunction syndrome
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
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Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
Additional submitter:
Shariant Australia, Australian Genomics
Accession: SCV002557770.1
First in ClinVar: Aug 08, 2022 Last updated: Aug 08, 2022 |
Comment:
Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0104 - Dominant negative is a known mechanism of … (more)
Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0104 - Dominant negative is a known mechanism of disease in this gene and is associated with familial thoracic aortic aneurysm 6 (MIM#611788), Moyamoya disease 5 (MIM#614042) and multisystemic smooth muscle dysfunction syndrome (MIM#613834) (PMID: 27551047, 28652363). (I) 0107 - This gene is associated with autosomal dominant disease. (I) 0200 - Variant is predicted to result in a missense amino acid change from arginine to histidine. (I) 0251 - This variant is heterozygous. (I) 0301 - Variant is absent from gnomAD (both v2 and v3). (SP) 0502 - Missense variant with conflicting in silico predictions and uninformative conservation. (I) 0600 - Variant is located in the annotated Actin domain (NCBI). (I) 0703 - Other missense variants comparable to the one identified in this case have moderate previous evidence for pathogenicity. Alternative changes to serine and cysteine have been reported in individuals with smooth muscle dysfunction syndrome (ClinVar, PMID: 29300374). (SP) 0801 - This variant has strong previous evidence of pathogenicity in unrelated individuals. This is a recurrent de novo pathogenic variant in individuals with multisystemic smooth muscle dysfunction syndrome (ClinVar, PMID: 29300374, 31911919). (SP) 1102 - Strong phenotype match for this individual. (SP) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign (less)
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Pathogenic
(Mar 01, 2011)
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no assertion criteria provided
Method: literature only
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MOYAMOYA DISEASE 5
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000043727.11
First in ClinVar: Apr 04, 2013 Last updated: Mar 10, 2024 |
Comment on evidence:
Smooth Muscle Dysfunction Syndrome In 7 unrelated patients of northern European descent with smooth muscle dysfunction syndrome (SMDYS; 613834), Milewicz et al. (2010) identified heterozygosity … (more)
Smooth Muscle Dysfunction Syndrome In 7 unrelated patients of northern European descent with smooth muscle dysfunction syndrome (SMDYS; 613834), Milewicz et al. (2010) identified heterozygosity for a de novo arg179-to-his (R179H) substitution in the ACTA2 gene. The mutation was not identified in parents' DNA samples, confirming the de novo status in 5 patients. Three of the patients had previously been reported (Ades et al., 1999, Khan et al., 2004, and Lemire et al., 2004, respectively). Brodsky et al. (2014) identified the R179H mutation in a 9-year-old boy diagnosed with congenital mydriasis and prune belly syndrome with megacystis, bilateral hydroureter, and hydronephrosis requiring surgical correction. On echocardiography at age 9 years, he had severe dilatation of the aortic root and mid-ascending aorta. MRI showed massive dilatation of the intracranial arteries and tortuosity of the distal cerebral vasculature. In 3 unrelated females with SMDYS, including 1 of the patients (patient E) reported by Milewicz et al. (2010), Yetman et al. (2015) identified heterozygosity for the R179H mutation in the ACTA2 gene. All 3 presented with an aneurysmal patent ductus arteriosus, leading the authors to suggest that all infants with ductal aneurysms be tested for ACTA2 mutations. In a review of the clinical history and outcomes of 33 patients with SMDYS, Regalado et al. (2018) found that 24 of the patients were heterozygous for the R179H mutation. Moyamoya Disease 5 Roder et al. (2011) identified a heterozygous R179H mutation in 1 of 39 patients of European origin with moyamoya disease-5 (MYMY5; 614042) and no family history of the disorder. The patient was a girl who had a stroke at age 3 years, but she had no other abnormalities, particularly none of those described by Milewicz et al. (2010). (less)
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Pathogenic
(Mar 01, 2011)
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no assertion criteria provided
Method: literature only
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SMOOTH MUSCLE DYSFUNCTION SYNDROME
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000043726.11
First in ClinVar: Apr 04, 2013 Last updated: Mar 10, 2024 |
Comment on evidence:
Smooth Muscle Dysfunction Syndrome In 7 unrelated patients of northern European descent with smooth muscle dysfunction syndrome (SMDYS; 613834), Milewicz et al. (2010) identified heterozygosity … (more)
Smooth Muscle Dysfunction Syndrome In 7 unrelated patients of northern European descent with smooth muscle dysfunction syndrome (SMDYS; 613834), Milewicz et al. (2010) identified heterozygosity for a de novo arg179-to-his (R179H) substitution in the ACTA2 gene. The mutation was not identified in parents' DNA samples, confirming the de novo status in 5 patients. Three of the patients had previously been reported (Ades et al., 1999, Khan et al., 2004, and Lemire et al., 2004, respectively). Brodsky et al. (2014) identified the R179H mutation in a 9-year-old boy diagnosed with congenital mydriasis and prune belly syndrome with megacystis, bilateral hydroureter, and hydronephrosis requiring surgical correction. On echocardiography at age 9 years, he had severe dilatation of the aortic root and mid-ascending aorta. MRI showed massive dilatation of the intracranial arteries and tortuosity of the distal cerebral vasculature. In 3 unrelated females with SMDYS, including 1 of the patients (patient E) reported by Milewicz et al. (2010), Yetman et al. (2015) identified heterozygosity for the R179H mutation in the ACTA2 gene. All 3 presented with an aneurysmal patent ductus arteriosus, leading the authors to suggest that all infants with ductal aneurysms be tested for ACTA2 mutations. In a review of the clinical history and outcomes of 33 patients with SMDYS, Regalado et al. (2018) found that 24 of the patients were heterozygous for the R179H mutation. Moyamoya Disease 5 Roder et al. (2011) identified a heterozygous R179H mutation in 1 of 39 patients of European origin with moyamoya disease-5 (MYMY5; 614042) and no family history of the disorder. The patient was a girl who had a stroke at age 3 years, but she had no other abnormalities, particularly none of those described by Milewicz et al. (2010). (less)
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Pathogenic
(Jun 09, 2016)
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no assertion criteria provided
Method: clinical testing
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Connective tissue disorder
alterations of great arteries and veins
Affected status: yes
Allele origin:
unknown
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Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV000492539.2
First in ClinVar: Jan 13, 2017 Last updated: Jul 22, 2023 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Genome Diagnostics Laboratory, Amsterdam University Medical Center
Study: VKGL Data-share Consensus
Accession: SCV001807059.1 First in ClinVar: Aug 27, 2021 Last updated: Aug 27, 2021 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001973424.1 First in ClinVar: Oct 07, 2021 Last updated: Oct 07, 2021 |
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Multisystem smooth muscle dysfunction syndrome in a Chinese girl: A case report and review of the literature. | Chen SN | World journal of clinical cases | 2019 | PMID: 31911919 |
Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations. | Regalado ES | Genetics in medicine : official journal of the American College of Medical Genetics | 2018 | PMID: 29300374 |
Vascular disease-causing mutation, smooth muscle α-actin R258C, dominantly suppresses functions of α-actin in human patient fibroblasts. | Liu Z | Proceedings of the National Academy of Sciences of the United States of America | 2017 | PMID: 28652363 |
Extracorporeal Life Support in Multisystem Smooth Muscle Dysfunction Syndrome. | Prabhu S | World journal for pediatric & congenital heart surgery | 2017 | PMID: 27549731 |
Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes. | Moreno CA | American journal of medical genetics. Part A | 2016 | PMID: 27481187 |
Indirect and direct revascularization of ACTA2 cerebral arteriopathy: feasibility of the superficial temporal artery to anterior cerebral artery bypass with posterior auricular artery interposition graft: case report. | Rutledge WC | Journal of neurosurgery. Pediatrics | 2016 | PMID: 27176728 |
The defining pathology of the new clinical and histopathologic entity ACTA2-related cerebrovascular disease. | Georgescu MM | Acta neuropathologica communications | 2015 | PMID: 26637293 |
Progressive Aortic Dilation Associated With ACTA2 Mutations Presenting in Infancy. | Yetman AT | Pediatrics | 2015 | PMID: 26034244 |
Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy. | Wooderchak-Donahue W | American journal of medical genetics. Part A | 2015 | PMID: 25944730 |
Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations. | Regalado ES | Circulation. Cardiovascular genetics | 2015 | PMID: 25759435 |
Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation. | Brodsky MC | Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus | 2014 | PMID: 24998021 |
Congenital fixed dilated pupils due to ACTA2- multisystemic smooth muscle dysfunction syndrome. | Roulez FM | Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society | 2014 | PMID: 24621862 |
Cerebral arteriopathy associated with Arg179His ACTA2 mutation. | Amans MR | BMJ case reports | 2013 | PMID: 24293535 |
ACTA2 mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcome. | Meuwissen ME | American journal of medical genetics. Part A | 2013 | PMID: 23613326 |
How commonly do children with complex cerebral arteriopathy have renovascular disease? | Willsher A | Developmental medicine and child neurology | 2013 | PMID: 23253043 |
Neonatal stroke and progressive leukoencephalopathy in a child with an ACTA2 mutation. | Moosa AN | Journal of child neurology | 2013 | PMID: 22752479 |
Brachial artery occlusion in a young adult with an ACTA2 thoracic aortic aneurysm. | Al-Mohaissen M | Vascular medicine (London, England) | 2012 | PMID: 22946110 |
A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations. | Munot P | Brain : a journal of neurology | 2012 | PMID: 22831780 |
Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome. | Moller HU | The British journal of ophthalmology | 2012 | PMID: 22790431 |
Bidirectional attack on the actin cytoskeleton. Bacterial protein toxins causing polymerization or depolymerization of actin. | Aktories K | Toxicon : official journal of the International Society on Toxinology | 2012 | PMID: 22543189 |
R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations. | Richer J | American journal of medical genetics. Part A | 2012 | PMID: 22302747 |
Analysis of ACTA2 in European Moyamoya disease patients. | Roder C | European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society | 2011 | PMID: 20970362 |
De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. | Milewicz DM | American journal of medical genetics. Part A | 2010 | PMID: 20734336 |
Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. | Guo DC | American journal of human genetics | 2009 | PMID: 19409525 |
Congenital mydriasis, patent ductus arteriosus, and congenital cystic lung disease: new syndromic spectrum? | Lemire BD | American journal of medical genetics. Part A | 2004 | PMID: 15472996 |
Early myocardial function affects endocardial cushion development in zebrafish. | Bartman T | PLoS biology | 2004 | PMID: 15138499 |
Moyamoya angiopathy with dolichoectatic internal carotid arteries, patent ductus arteriosus and pupillary dysfunction: a new genetic syndrome? | Khan N | European neurology | 2004 | PMID: 14730227 |
Biochemical consequences of the cardiofunk (R177H) mutation in yeast actin. | Wen KK | The Journal of biological chemistry | 2003 | PMID: 13129918 |
Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent. | Adès LC | Clinical dysmorphology | 1999 | PMID: 10532176 |
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Text-mined citations for rs387906592 ...
HelpRecord last updated Mar 23, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.