ClinVar Genomic variation as it relates to human health
NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr)
Variation ID: 164342 Accession: VCV000164342.30
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 14q11.2 14: 23425774 (GRCh38) [ NCBI UCSC ] 14: 23894983 (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 May 29, 2016 May 1, 2024 Dec 15, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000257.4:c.2207T>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000248.2:p.Ile736Thr missense NC_000014.9:g.23425774A>G NC_000014.8:g.23894983A>G NG_007884.1:g.14888T>C LRG_384:g.14888T>C LRG_384t1:c.2207T>C P12883:p.Ile736Thr - Protein change
- I736T
- Other names
- p.I736T:ATT>ACT
- NM_000257.3(MYH7):c.2207T>C
- Canonical SPDI
- NC_000014.9:23425773:A:G
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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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MYH7 | No evidence available | No evidence available |
GRCh38 GRCh37 |
3609 | 4874 |
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 (4) |
criteria provided, multiple submitters, no conflicts
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Mar 19, 2020 | RCV000151279.8 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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May 31, 2023 | RCV000158520.12 | |
Pathogenic (1) |
criteria provided, single submitter
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Oct 23, 2023 | RCV000621605.5 | |
Pathogenic (4) |
reviewed by expert panel
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Dec 15, 2016 | RCV000471476.19 | |
Pathogenic (1) |
criteria provided, single submitter
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- | RCV001594383.2 | |
Pathogenic (1) |
criteria provided, single submitter
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Sep 24, 2021 | RCV003149921.3 |
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
(Dec 15, 2016)
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reviewed by expert panel
Method: curation
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Hypertrophic cardiomyopathy
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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ClinGen Cardiomyopathy Variant Curation Expert Panel
FDA Recognized Database
Accession: SCV000564426.5 First in ClinVar: Jun 03, 2016 Last updated: Dec 11, 2022 |
Comment:
The c.2207T>C (p.Ile736Thr) variant in MYH7 has been reported in >20 individuals with hypertrophic cardiomyopathy (PS4; PMID:16630449; PMID:12974739; PMID:16199542; PMID:15856146; PMID:17125710; PMID:20738943; SHaRe consortium, PMID: … (more)
The c.2207T>C (p.Ile736Thr) variant in MYH7 has been reported in >20 individuals with hypertrophic cardiomyopathy (PS4; PMID:16630449; PMID:12974739; PMID:16199542; PMID:15856146; PMID:17125710; PMID:20738943; SHaRe consortium, PMID: 30297972; Partners LMM ClinVar SCV000199207.4; AGCMC Sydney ClinVar SCV000212631.2). This variant segregated with disease in 5 affected individuals (PP1_Moderate; PMID:15856146; PMID:17125710; Partners LMM ClinVar SCV000199207.4). This variant was absent from large population studies (PM2; http://exac.broadinstitute.org). This variant lies in the head region of the protein (aa 181-937) and missense variants in this region are statistically more likely to be disease-associated (PM1; PMID:27532257). In summary, this variant meets criteria to be classified as pathogenic for hypertrophic cardiomyopathy in an autosomal dominant manner. MYH7-specific ACMG/AMP criteria applied (PMID:29300372): PS4; PM1; PM2; PP1_Moderate (less)
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Pathogenic
(Mar 28, 2017)
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criteria provided, single submitter
Method: research
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Hypertrophic cardiomyopathy 1
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
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Agnes Ginges Centre for Molecular Cardiology, Centenary Institute
Accession: SCV000212631.3
First in ClinVar: Mar 24, 2015 Last updated: Dec 11, 2022 |
Comment:
This MYH7 Ile736Thr variant has been identified in multiple unrelated HCM individuals (see literature) and has been found to segregate in at least 2 families … (more)
This MYH7 Ile736Thr variant has been identified in multiple unrelated HCM individuals (see literature) and has been found to segregate in at least 2 families (Perrot A, et al., 2005; Laredo R, et al., 2007). The Ile736Thr variant occurs in the converter domain of the MYH7 which is generally associated with poorer outcomes in cardiomyopathy patients, however patients carrying this specific mutation were found to have less adverse events (GarcÃa-Giustiniani D, et al., 2015). We have identified this variant in two HCM index cases in our patient cohort. The variant is absent from the 1000 genomes project (http://www.1000genomes.org/), as well as the Exome Aggregation Consortium dataset (http://exac.broadinstitute.org/). Computational tools SIFT, PolyPhen-2 and MutationTaster predict the variant to be deleterious, however PolyPhen-HCM predicts this variant to be "benign". Based on multiple reports of the variant in HCM cases, strong segregation with disease, rarity in the general population and because missense MYH7 variants are a common cause of disease and rarely benign, we classify MYH7 Ile736Thr as "pathogenic". (less)
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Pathogenic
(May 31, 2023)
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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: SCV000208455.15
First in ClinVar: Feb 24, 2015 Last updated: Nov 25, 2023 |
Comment:
Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; … (more)
Not observed at significant frequency in large population cohorts (gnomAD); 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: 22112859, 8533830, 12974739, 19651039, 27247418, 28606303, 27532257, 15856146, 16199542, 23711808, 12820698, 17125710, 22455086, 25935763, 25346696, 26743238, 27217341, 21943931, 21472310, 21769673, 29398688, 29300372, 16630449, 19808356, 20738943, 20800588, 30775854, 31960626, 23074333, 29961767, 31513939, 33673806, 32894683, 33906374, 34542152, 35352813, 35626289, 35208637) (less)
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Pathogenic
(Nov 03, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000199207.5
First in ClinVar: Feb 02, 2015 Last updated: Apr 20, 2024 |
Comment:
The p.Ile736Thr variant in MYH7 has been reported in >10 individuals with HCM, segregated with disease in 7 affected relatives from 3 families (Erdman 2003 … (more)
The p.Ile736Thr variant in MYH7 has been reported in >10 individuals with HCM, segregated with disease in 7 affected relatives from 3 families (Erdman 2003 PMID: 12974739, Ingles 2005 PMID: 16199542, Liu 2006 PMID: 16630449, Laredo 2006 PMID: 17125710, Barriales Villa 2010 PMID: 20738943, LMM data), and was absent from large population studies. The variant has been reported in ClinVar (Variation ID 164342). In vitro functional studies provide some evidence that the p.Ile736Thr variant may not impact protein function (Seebohm 2009 PMID: 19651039, Tripathi 2011 PMID: 21769673). However, these types of assays may not accurately represent biological function. Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, this variant meets our criteria to be classified as pathogenic for HCM in an autosomal dominant manner based upon segregation studies and absence from controls. ACMG/AMP criteria applied: PS4, PP1_Strong, PM2_Supporting. (less)
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Pathogenic
(Aug 01, 2017)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy 1
Affected status: unknown
Allele origin:
germline
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Phosphorus, Inc.
Accession: SCV000679783.1
First in ClinVar: May 29, 2016 Last updated: May 29, 2016 |
Number of individuals with the variant: 1
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Likely pathogenic
(Oct 31, 2018)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy
Affected status: yes
Allele origin:
germline
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Center for Human Genetics, University of Leuven
Accession: SCV000886787.1
First in ClinVar: May 02, 2019 Last updated: May 02, 2019 |
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Pathogenic
(Mar 14, 2017)
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criteria provided, single submitter
Method: clinical testing
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Not provided
Affected status: unknown
Allele origin:
germline
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Blueprint Genetics
Accession: SCV000927206.1
First in ClinVar: Jul 31, 2019 Last updated: Jul 31, 2019
Comment:
Patient analyzed with Hypertrophic Cardiomyopathy (HCM) Panel
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Pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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Dilated cardiomyopathy 1S
Affected status: yes
Allele origin:
germline
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KTest Genetics, KTest
Accession: SCV001499970.1
First in ClinVar: Sep 08, 2021 Last updated: Sep 08, 2021 |
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Pathogenic
(Mar 19, 2020)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy 1
Affected status: unknown
Allele origin:
germline
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Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
Accession: SCV001754771.1
First in ClinVar: Jul 24, 2021 Last updated: Jul 24, 2021 |
Comment:
The c.2207T>C (p.Ile736Thr) variant of MYH7 gene results in an amino acid change at residue 736 from an isoleucine to a threonine. This variant has … (more)
The c.2207T>C (p.Ile736Thr) variant of MYH7 gene results in an amino acid change at residue 736 from an isoleucine to a threonine. This variant has been reported in multiple individuals with hypertrophic cardiomyopathy (PMID: 16199542, 22112859, 23711808, 12820698, 12974739, 22455086, 27247418; 27532257). This variant segregated with disease in affected individuals (PMID: 15856146, 25935763, 17125710). This change is predicted to be deleterious by multiple in-silico algorithms and has not been observed in the gnomAD population variant database. Furthermore, this variant lies in a functionally important domain where other cardiomyopathy-associated missense variants have been described (PMID: 27532257). For these reasons, this variant c.2207T>C (p.Ile736Thr) variant in MYH7 is interpreted as pathogenic. (less)
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Pathogenic
(Sep 24, 2021)
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criteria provided, single submitter
Method: clinical testing
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Cardiomyopathy
Affected status: unknown
Allele origin:
germline
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CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
Accession: SCV003838759.1
First in ClinVar: Mar 11, 2023 Last updated: Mar 11, 2023 |
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Pathogenic
(Jan 17, 2024)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000546211.10
First in ClinVar: Apr 17, 2017 Last updated: Feb 20, 2024 |
Comment:
This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 736 of the MYH7 protein (p.Ile736Thr). … (more)
This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 736 of the MYH7 protein (p.Ile736Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with hypertrophic cardiomyopathy (PMID: 12820698, 12974739, 15856146, 16199542, 22112859, 22455086, 23711808, 25935763). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 164342). 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 expected to disrupt MYH7 protein function with a positive predictive value of 95%. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on MYH7 function (PMID: 19651039, 25346696). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Oct 23, 2023)
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criteria provided, single submitter
Method: clinical testing
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Cardiovascular phenotype
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV000740183.5
First in ClinVar: Apr 14, 2018 Last updated: May 01, 2024 |
Comment:
The p.I736T pathogenic mutation (also known as c.2207T>C), located in coding exon 18 of the MYH7 gene, results from a T to C substitution at … (more)
The p.I736T pathogenic mutation (also known as c.2207T>C), located in coding exon 18 of the MYH7 gene, results from a T to C substitution at nucleotide position 2207. The isoleucine at codon 736 is replaced by threonine, an amino acid with similar properties. This amino acid position is located within the converter domain of cardiac b-myosin, which is enriched in HCM-associated pathogenic variants (Homburger JR et al. Proc. Natl. Acad. Sci. U.S.A., 2016 06;113:6701-6). This variant has been detected in multiple unrelated individuals with hypertrophic cardiomyopathy (Erdmann J et al. Clin. Genet., 2003 Oct;64:339-49; Mohiddin SA et al. Genet. Test., 2003;7:21-7; Perrot A et al. J. Mol. Med., 2005 Jun;83:468-77; Ingles J et al. J. Med. Genet., 2005 Oct;42:e59; Liu WL et al. Zhonghua Xin Xue Guan Bing Za Zhi, 2006 Mar;34:202-7; Laredo R et al. Rev Esp Cardiol, 2006 Oct;59:1008-18; García-Giustiniani D et al. Heart, 2015 Jul;101:1047-53; Curila K et al. Acta Cardiol, 2012 Feb;67:23-9; Homburger JR et al. Proc. Natl. Acad. Sci. U.S.A., 2016 06;113:6701-6; Walsh R et al. Genet. Med., 2017 Feb;19:192-203). This variant has also been reported to segregate with HCM in families (Perrot A et al. J. Mol. Med., 2005 Jun;83:468-77; Liu WL et al. Zhonghua Xin Xue Guan Bing Za Zhi, 2006 Mar;34:202-7; Laredo R et al. Rev Esp Cardiol, 2006 Oct;59:1008-18). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. In addition, this variant is predicted to be deleterious by in silico analysis. Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation. (less)
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Likely pathogenic
(Jan 31, 2012)
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no assertion criteria provided
Method: clinical testing
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Not provided
Affected status: not provided
Allele origin:
germline
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Stanford Center for Inherited Cardiovascular Disease, Stanford University
Accession: SCV000280316.1
First in ClinVar: May 29, 2016 Last updated: May 29, 2016 |
Comment:
Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case … (more)
Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease. p. Ile736Thr (c.2207 T>C) in the MYH7 gene. The patient's genetic test results were last reviewed in September 2011. They were re-reviewed April 17th, 2013. There was no new case data on the variant, however there was new data on its prevalence in the general population. This variant has been reported in at least 9 unrelated cases with HCM (not including the patient) with weak segregation data (Mohiddin et al 2003; Perrot et al 2005; Ingles et al 2005; Liu et al 2006). Perrot et al (2005) reported the variant in three family members with HCM. Laredo et al (2006) reported the variant in three unrelated families with HCM; in one family the variant was observed in three affected individuals. We have seen the variant in another family with HCM. Other variants at the same codon have been reported in association with HCM: p.Ile736Val (Gorham et al 2003) and p.Ile736Met (Koyangi et al 1996, Muraishi et al 1999). Krischner et al (2005) reported the p.Ile736Thr is associated with a slightly increased calcium sensitivity and higher active forces at lower calcium concentrations with residual active force under relaxing conditions. PolyPhen-2 predicts the variant to be probably damaging (with a score of 1.00). The isoleucine at codon 736 is completely conserved across species and neighboring amino acids are either completely or highly conserved. In total the variant has not been seen in ~6996 published controls and individuals from publicly available population datasets. There is no variation at codon 736 listed in the NHLBI Exome Sequencing Project dataset, which currently includes variant calls on ~6500 Caucasian and African American individuals (as of April 17th, 2013). There is also no variation at this codon listed in dbSNP (as of April 17th, 2013). There is a variant at codon 736 listed in 1000 genomes, however that points to an HGMD entry (April 17th, 2013). The variant was not observed in the following published control samples: The p.Ile736Thr variant has been reported as absent in 96 (Perrot et al 2005), 100 (Mohiddin et al 2003), 100 (Laredo et al 2006), 150 (Ingles et al 2005), and 50 (Erdmann et al 2003) individuals for a total of 496 presumed healthy individuals. (less)
Number of individuals with the variant: 10
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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Hypertrophic cardiomyopathy 1
Affected status: yes
Allele origin:
unknown
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Institute of Human Genetics, University of Wuerzburg
Accession: SCV004032152.1
First in ClinVar: Sep 09, 2023 Last updated: Sep 09, 2023 |
Number of individuals with the variant: 1
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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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Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel. | Kelly MA | Genetics in medicine : official journal of the American College of Medical Genetics | 2018 | PMID: 29300372 |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. | Walsh R | Genetics in medicine : official journal of the American College of Medical Genetics | 2017 | PMID: 27532257 |
Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation. | Homburger JR | Proceedings of the National Academy of Sciences of the United States of America | 2016 | PMID: 27247418 |
Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain. | García-Giustiniani D | Heart (British Cardiac Society) | 2015 | PMID: 25935763 |
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. | Richards S | Genetics in medicine : official journal of the American College of Medical Genetics | 2015 | PMID: 25741868 |
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. | Alfares AA | Genetics in medicine : official journal of the American College of Medical Genetics | 2015 | PMID: 25611685 |
Familial hypertrophic cardiomyopathy: functional variance among individual cardiomyocytes as a trigger of FHC-phenotype development. | Brenner B | Frontiers in physiology | 2014 | PMID: 25346696 |
Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy. | Bos JM | Mayo Clinic proceedings | 2014 | PMID: 24793961 |
A systematic approach to assessing the clinical significance of genetic variants. | Duzkale H | Clinical genetics | 2013 | PMID: 24033266 |
Mutation spectrum in a large cohort of unrelated Chinese patients with hypertrophic cardiomyopathy. | Liu W | The American journal of cardiology | 2013 | PMID: 23711808 |
Spectrum and clinical manifestations of mutations in genes responsible for hypertrophic cardiomyopathy. | Curila K | Acta cardiologica | 2012 | PMID: 22455086 |
Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy. | Otsuka H | Circulation journal : official journal of the Japanese Circulation Society | 2012 | PMID: 22112859 |
Unequal allelic expression of wild-type and mutated β-myosin in familial hypertrophic cardiomyopathy. | Tripathi S | Basic research in cardiology | 2011 | PMID: 21769673 |
Severe cardiac conduction disturbances and pacemaker implantation in patients with hypertrophic cardiomyopathy. | Barriales-Villa R | Revista espanola de cardiologia | 2010 | PMID: 20738943 |
Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy. | Theis JL | Circulation. Heart failure | 2009 | PMID: 19808356 |
Cardiomyopathy mutations reveal variable region of myosin converter as major element of cross-bridge compliance. | Seebohm B | Biophysical journal | 2009 | PMID: 19651039 |
ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. | Richards CS | Genetics in medicine : official journal of the American College of Medical Genetics | 2008 | PMID: 18414213 |
[Beta-myosin heavy-chain gene mutations in patients with hypertrophic cardiomyopathy]. | Laredo R | Revista espanola de cardiologia | 2006 | PMID: 17125710 |
[Analysis of MYH7, MYBPC3 and TNNT2 gene mutations in 10 Chinese pedigrees with familial hypertrophic cardiomyopathy and the correlation between genotype and phenotype]. | Liu WL | Zhonghua xin xue guan bing za zhi | 2006 | PMID: 16630449 |
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. | Ingles J | Journal of medical genetics | 2005 | PMID: 16199542 |
Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy. | Perrot A | Journal of molecular medicine (Berlin, Germany) | 2005 | PMID: 15856146 |
Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. | Erdmann J | Clinical genetics | 2003 | PMID: 12974739 |
Utility of genetic screening in hypertrophic cardiomyopathy: prevalence and significance of novel and double (homozygous and heterozygous) beta-myosin mutations. | Mohiddin SA | Genetic testing | 2003 | PMID: 12820698 |
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/e08a8c4f-f972-4f81-80b1-528cd4e6ca91 | - | - | - | - |
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Text-mined citations for rs727503261 ...
HelpRecord last updated Jun 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.