ClinVar Genomic variation as it relates to human health
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys)
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_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys)
Variation ID: 546089 Accession: VCV000546089.31
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 19p13.12 19: 15187315 (GRCh38) [ NCBI UCSC ] 19: 15298126 (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 Jul 9, 2018 Feb 28, 2024 Nov 21, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000435.3:c.1630C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000426.2:p.Arg544Cys missense NC_000019.10:g.15187315G>A NC_000019.9:g.15298126G>A NG_009819.1:g.18667C>T - Protein change
- R544C
- Other names
- Chinese founder variant
- Canonical SPDI
- NC_000019.10:15187314:G:A
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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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0.00020 (A)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD) 0.00010
Trans-Omics for Precision Medicine (TOPMed) 0.00010
1000 Genomes Project 30x 0.00016
1000 Genomes Project 0.00020
Exome Aggregation Consortium (ExAC) 0.00027
- Links
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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NOTCH3 | - | - |
GRCh38 GRCh37 |
1471 | 1509 |
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/Likely pathogenic (5) |
criteria provided, multiple submitters, no conflicts
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Nov 21, 2023 | RCV000657880.26 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Nov 6, 2021 | RCV000763038.11 | |
Pathogenic (5) |
criteria provided, multiple submitters, no conflicts
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May 4, 2022 | RCV000778145.16 | |
Pathogenic (1) |
criteria provided, single submitter
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Dec 23, 2021 | RCV001805784.9 |
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
(Apr 05, 2019)
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criteria provided, single submitter
Method: clinical testing
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Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Affected status: unknown
Allele origin:
germline
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Illumina Laboratory Services, Illumina
Accession: SCV000914276.1
First in ClinVar: May 27, 2019 Last updated: May 27, 2019 |
Comment:
The NOTCH3 c.1630C>T (p.Arg544Cys) missense variant has been reported extensively in the literature, particularly in individuals affected with cerebral autosomal dominant arteriopathy with subcortical infarcts … (more)
The NOTCH3 c.1630C>T (p.Arg544Cys) missense variant has been reported extensively in the literature, particularly in individuals affected with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) of Asian descent, where the variant appears to be a founder variant (Lee et al. 2009; Choi et al. 2013; Liao et al. 2015). Across a selection of the available literature, the p.Arg544Cys variant has been identified in 155 individuals affected with CADASIL, including four individuals who were homozygous for the variant (Oberstein et al. 1999; Lee et al. 2009b; Choi et al. 2013; Soong et al. 2013; Kim et al. 2014; Liao et al. 2015). Of note, the expressivity of CADASIL varies in age of onset, severity of clinical symptoms and progression of disease (Rutten et al. 2000). The p.Arg544Cys variant was absent from 100 controls and is reported at a frequency of 0.003821 in the East Asian population of the Genome Aggregation Database. Based on the evidence, the p.Arg544Cys variant is classified as pathogenic for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. (less)
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Likely pathogenic
(Apr 01, 2020)
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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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ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001473517.1
First in ClinVar: Jan 26, 2021 Last updated: Jan 26, 2021 |
Comment:
The NOTCH3 c.1630C>T; p.Arg544Cys variant (rs201118034) is reported in the literature in several individuals with CADASIL and segregates with disease in families (Choi 2013, Liao … (more)
The NOTCH3 c.1630C>T; p.Arg544Cys variant (rs201118034) is reported in the literature in several individuals with CADASIL and segregates with disease in families (Choi 2013, Liao 2015, Tang 2018, Yoon 2015). The variant exhibits a founder effect in Asians (Liao 2015) and is reported in the East Asian population with an allele frequency of 0.4% (79/19916 alleles) in the Genome Aggregation Database. The variant is reported as pathogenic or likely pathogenic by several sources in the ClinVar database (Variation ID: 546089). The arginine at codon 544 computational analyses (SIFT: Tolerated, PolyPhen-2: Possibly Damaging) predict conflicting effects of this variant on protein structure/function. However, this variant creates a cysteine in an EGF-like domain and most pathogenic NOTCH3 variants create or destroy a cysteine residue within an EGF-like domain (Rutten 2014); thus, the p.Arg544Cys variant is consistent with the predominant mechanism of disease in NOTCH3. Considering available information, this variant is classified as likely pathogenic. REFERENCES Choi JC et al. Diversity of stroke presentation in CADASIL: study from patients harboring the predominant NOTCH3 mutation R544C. J Stroke Cerebrovasc Dis. 2013 Feb;22(2):126-31. Liao YC et al. Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles. PLoS One. 2015 Aug 26;10(8):e0136501. Rutten JW et al. Interpretation of NOTCH3 mutations in the diagnosis of CADASIL. Expert Rev Mol Diagn. 2014 Jun;14(5):593-603. Tang SC et al. Prevalence and clinical characteristics of stroke patients with p.R544C NOTCH3 mutation in Taiwan. Ann Clin Transl Neurol. 2018 Nov 20;6(1):121-128. Yoon CW et al. NOTCH3 variants in patients with subcortical vascular cognitive impairment: a comparison with typical CADASIL patients. Neurobiol Aging. 2015 Aug;36(8):2443.e1-7. (less)
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Likely pathogenic
(Apr 06, 2020)
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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: SCV000779643.1
First in ClinVar: Jul 09, 2018 Last updated: Jul 09, 2018 |
Comment:
In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the … (more)
In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 24344756, 25095812, 21852154, 28549449, 31515791, 23847153, 18207319, 24480794, 19252787, 23602593, 16580020, 17135568, 10371548, 26002683, 22133740, 24139282, 27844030, 25105908, 26671140, 28710804, 26308724, 25692567, 25959358, 19242647, 30199759, 30656190, 31792094, 32410215, 32277177) (less)
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Pathogenic
(Dec 23, 2021)
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criteria provided, single submitter
Method: clinical testing
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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV002051334.1
First in ClinVar: Jan 08, 2022 Last updated: Jan 08, 2022 |
Comment:
Variant summary: NOTCH3 c.1630C>T (p.Arg544Cys) results in a non-conservative amino acid change at a location bordered between the EGFR-13 and EGFR-14 domains (IPR000742) of the … (more)
Variant summary: NOTCH3 c.1630C>T (p.Arg544Cys) results in a non-conservative amino acid change at a location bordered between the EGFR-13 and EGFR-14 domains (IPR000742) of the encoded protein sequence. This is different from other cysteine involving mutations residing within an EGFR domain and therefore, comparing with other cysteine-involving NOTCH3 mutations, R544C may result in a milder conformational change of NOTCH3 molecules and consequently a milder clinical phenotype (Liao_2015). Gain/loss of cysteine residues in the EGFr domains in NOTCH3 have been shown to be typical mutations of CADASIL and NOTCH3-related disorders (reviewed by Mizuno_2020). Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00032 in 250312 control chromosomes, particularly at a frequency of 0.0041 within the East Asian subpopulation in the gnomAD database. c.1630C>T has been reported in the literature in multiple individuals/families (mainly of East Asian origin) affected with CADASIL and NOTCH3-Related Disorders (example: Oberstein_1999, Kim_2006, Soong_2013, Liao_2015). Asymptomatic individuals with the variant have also been reported within affected families (example: Kim_2006, Liao_2015). Recent data suggest that CADASIL is much more prevalent than previously suspected and the NOTCH3 clinical spectrum must be considerably broader, ranging from classic CADASIL to a much milder small-vessel disease, or possibly even non-penetrance (Hack RJ, Rutten J, Lesnik Oberstein SAJ. CADASIL. 2000 Mar 15 [Updated 2019 Mar 14]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Seven ClinVar submitters have assessed this variant since 2014: four have classified the variant as likely pathogenic and three as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(Jan 03, 2022)
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criteria provided, single submitter
Method: clinical testing
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Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Affected status: yes
Allele origin:
germline
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3billion
Accession: SCV002058228.1
First in ClinVar: Jan 08, 2022 Last updated: Jan 08, 2022 |
Comment:
The variant known to cause Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 in an autosomal dominant inheritance pattern. The variant the most common variant … (more)
The variant known to cause Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 in an autosomal dominant inheritance pattern. The variant the most common variant associated with CADASIL in the East Asian population (PMID: 25692567, 26308724, 31792094). It has been observed in multiple (>3) similarly affected unrelated individuals(PMID: 32277177, 30906334, 25692567, 26308724, 31792094, PS4_S). A missense variant is a common mechanism associated with Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 (PP2_P). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. (less)
Clinical Features:
Leukoencephalopathy (present)
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Pathogenic
(May 04, 2022)
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criteria provided, single submitter
Method: clinical testing
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Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Affected status: unknown
Allele origin:
germline
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Mendelics
Accession: SCV002517806.1
First in ClinVar: May 28, 2022 Last updated: May 28, 2022 |
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Pathogenic
(May 06, 2021)
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criteria provided, single submitter
Method: clinical testing
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Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
(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: SCV002767997.1
First in ClinVar: Dec 24, 2022 Last updated: Dec 24, 2022 |
Comment:
Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0105 - The mechanism of disease for this gene … (more)
Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0105 - The mechanism of disease for this gene is not clearly established. Both loss of function and dominant negative have been suggested as mechanisms in CADASIL (MIM#125310), however lateral meningocele syndrome (MIM#130720) results from a gain of function (OMIM). (I) 0107 - This gene is associated with autosomal dominant disease. (I) 0115 - Variants in this gene are known to have variable expressivity. The p.(Arg544Cys) variant is associated with a later age of onset and milder clinical features than other NOTCH3 variants (GeneReviews, PMID: 26308724). (I) 0200 - Variant is predicted to result in a missense amino acid change from arginine to cysteine. (I) 0251 - This variant is heterozygous. (I) 0309 - Alternative amino acid changes at the same position have been observed in gnomAD (v3) (8 heterozygotes, 0 homozygotes). (I) 0310 - Variant is present in gnomAD (v2) >=0.001 and <0.01 for a dominant condition (83 heterozygotes, 0 homozygotes). (I) 0501 - Missense variant consistently predicted to be damaging by multiple in silico tools or highly conserved with a major amino acid change. (SP) 0604 - Variant is not located in an established domain, motif, hotspot or informative constraint region. (I) 0801 - This variant has very strong previous evidence of pathogenicity in unrelated individuals. This is considered to be a founder variant in East Asian populations and is one of the most common NOTCH3 variants, having been identified in over 100 individuals and families with CADASIL (MIM#125310) (ClinVar, HGMD, LOVD, PMIDs: PMID: 26308724, 30656190). (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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Likely pathogenic
(Nov 06, 2021)
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criteria provided, single submitter
Method: clinical testing
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Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Lateral meningocele syndrome Myofibromatosis, infantile, 2
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV000893515.2
First in ClinVar: Mar 31, 2019 Last updated: Dec 31, 2022 |
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Pathogenic
(May 22, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
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Athena Diagnostics Inc
Accession: SCV001475690.4
First in ClinVar: Jan 26, 2021 Last updated: Jan 26, 2024 |
Comment:
This variant is the most common variant associated with CADASIL in the East Asian population (PMID: 25692567, 26308724, 31792094), and is statistically more frequent in … (more)
This variant is the most common variant associated with CADASIL in the East Asian population (PMID: 25692567, 26308724, 31792094), and is statistically more frequent in affected individuals than in the general population and/or healthy controls (Genome Aggregation Database (gnomAD), Cambridge, MA (URL: http://gnomad.broadinstitute.org)). Reports of this variant in asymptomatic individuals, as well as affected heterozygous and homozygous patients, suggests this variant may have reduced penetrance (PMID: 26308724, 30199759, 30656190, 31792094). This variant occurs as the most likely explanation for disease in a significant number of cases, suggesting this variant is associated with disease. This variant alters a critical location within the protein, and is expected to severely affect function and cause disease. Greater than 90% of NOTCH3 pathogenic variants associated with CADASIL involve the gain or loss of a cysteine residue within the epidermal growth factor (EGF)-like repeat domain (PMID: 32457593, 20301673). (less)
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Likely pathogenic
(Sep 30, 2021)
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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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Revvity Omics, Revvity
Accession: SCV002020141.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
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Pathogenic
(Nov 21, 2023)
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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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Invitae
Accession: SCV002242127.3
First in ClinVar: Mar 28, 2022 Last updated: Feb 28, 2024 |
Comment:
This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 544 of the NOTCH3 protein … (more)
This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 544 of the NOTCH3 protein (p.Arg544Cys). This variant is present in population databases (rs201118034, gnomAD 0.4%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (PMID: 16717210, 19242647, 26308724, 30906334, 31792094). It is commonly reported in individuals of East Asian ancestry (PMID: 19242647). ClinVar contains an entry for this variant (Variation ID: 546089). 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 NOTCH3 protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic. (less)
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not provided
(-)
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no classification provided
Method: literature only
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Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Affected status: unknown
Allele origin:
germline
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GeneReviews
Accession: SCV000987226.2
First in ClinVar: Aug 31, 2019 Last updated: Oct 01, 2022 |
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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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Clinical and Genetic Aspects of CADASIL. | Mizuno T | Frontiers in aging neuroscience | 2020 | PMID: 32457593 |
Genotype-phenotype correlations and effect of mutation location in Japanese CADASIL patients. | Mukai M | Journal of human genetics | 2020 | PMID: 32277177 |
NOTCH3 cysteine-altering variant is an important risk factor for stroke in the Taiwanese population. | Lee YC | Neurology | 2020 | PMID: 31792094 |
Prevalence and clinical characteristics of stroke patients with p.R544C NOTCH3 mutation in Taiwan. | Tang SC | Annals of clinical and translational neurology | 2018 | PMID: 30656190 |
A Japanese CADASIL patient with homozygous NOTCH3 p.Arg544Cys mutation confirmed pathologically. | Mukai M | Journal of the neurological sciences | 2018 | PMID: 30199759 |
Phenotypic Features of Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Subjects with R544C Mutation. | Lee JS | Dementia and neurocognitive disorders | 2016 | PMID: 30906334 |
Intracranial arterial disease in CADASIL patients. | Kang HG | Journal of the neurological sciences | 2015 | PMID: 26671140 |
Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles. | Liao YC | PloS one | 2015 | PMID: 26308724 |
NOTCH3 variants in patients with subcortical vascular cognitive impairment: a comparison with typical CADASIL patients. | Yoon CW | Neurobiology of aging | 2015 | PMID: 26002683 |
Acute simultaneous multiple lacunar infarcts as the initial presentation of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. | Hsiao CT | Journal of the Chinese Medical Association : JCMA | 2015 | PMID: 25959358 |
Clinical significance of cerebral microbleeds locations in CADASIL with R544C NOTCH3 mutation. | Lee JS | PloS one | 2015 | PMID: 25692567 |
Characteristics of CADASIL in Chinese mainland patients. | Tan QC | Neurology India | 2014 | PMID: 25033846 |
Cognitive profile of CADASIL patients with R544C Notch3 mutation. | Song JK | European neurology | 2014 | PMID: 24480794 |
Spectrum of NOTCH3 mutations in Korean patients with clinically suspicious cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. | Kim YE | Neurobiology of aging | 2014 | PMID: 24139282 |
Headache among CADASIL patients with R544C mutation: prevalence, characteristics, and associations. | Choi JC | Cephalalgia : an international journal of headache | 2014 | PMID: 23847153 |
Spontaneous intracerebral hemorrhage in CADASIL. | Lian L | The journal of headache and pain | 2013 | PMID: 24344756 |
A homozygous NOTCH3 mutation p.R544C and a heterozygous TREX1 variant p.C99MfsX3 in a family with hereditary small vessel disease of the brain. | Soong BW | Journal of the Chinese Medical Association : JCMA | 2013 | PMID: 23602593 |
Diversity of stroke presentation in CADASIL: study from patients harboring the predominant NOTCH3 mutation R544C. | Choi JC | Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association | 2013 | PMID: 21852154 |
The remarkably variable expressivity of CADASIL: report of a minimally symptomatic man at an advanced age. | Lee YC | Journal of neurology | 2009 | PMID: 19252787 |
Population-specific spectrum of NOTCH3 mutations, MRI features and founder effect of CADASIL in Chinese. | Lee YC | Journal of neurology | 2009 | PMID: 19242647 |
Intracerebral hemorrhages in CADASIL. | Choi JC | Neurology | 2006 | PMID: 17135568 |
Characteristics of CADASIL in Korea: a novel cysteine-sparing Notch3 mutation. | Kim Y | Neurology | 2006 | PMID: 16717210 |
Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group. | Oberstein SA | Neurology | 1999 | PMID: 10371548 |
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Text-mined citations for rs201118034 ...
HelpRecord last updated May 01, 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.