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NM_000435.3(NOTCH3):c.1732C>T (p.Arg578Cys)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jul 4, 2021)
Last evaluated:
Aug 27, 2019
Accession:
VCV000808496.8
Variation ID:
808496
Description:
single nucleotide variant
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NM_000435.3(NOTCH3):c.1732C>T (p.Arg578Cys)

Allele ID
797766
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.12
Genomic location
19: 15187213 (GRCh38) GRCh38 UCSC
19: 15298024 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.15187213G>A
NC_000019.9:g.15298024G>A
NG_009819.1:g.18769C>T
NM_000435.3:c.1732C>T MANE Select NP_000426.2:p.Arg578Cys missense
Protein change
R578C
Other names
-
Canonical SPDI
NC_000019.10:15187212:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00004
Exome Aggregation Consortium (ExAC) 0.00004
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
dbSNP: rs769773673
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jan 1, 2017 RCV000996814.2
Likely pathogenic 1 criteria provided, single submitter Aug 27, 2019 RCV001285697.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NOTCH3 - - GRCh38
GRCh37
817 836

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Aug 27, 2019)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001472173.1
Submitted: (Dec 11, 2020)
Evidence details
Comment:
The NOTCH3 c.1732C>T; p.Arg578Cys variant (rs769773673) is reported in the literature in multiple individuals affected with CADASIL (Choi 2006, Joutel 1996, Liem 2008, Tikka 2009). … (more)
Likely pathogenic
(Jan 01, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001151744.7
Submitted: (Jul 04, 2021)
Evidence details

Functional evidence

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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 this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs769773673...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 07, 2021