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NM_000435.3(NOTCH3):c.1624T>C (p.Cys542Arg) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 16, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003482371.2

Allele description [Variation Report for NM_000435.3(NOTCH3):c.1624T>C (p.Cys542Arg)]

NM_000435.3(NOTCH3):c.1624T>C (p.Cys542Arg)

Gene:
NOTCH3:notch receptor 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.12
Genomic location:
Preferred name:
NM_000435.3(NOTCH3):c.1624T>C (p.Cys542Arg)
HGVS:
  • NC_000019.10:g.15187321A>G
  • NG_009819.1:g.18661T>C
  • NM_000435.3:c.1624T>CMANE SELECT
  • NP_000426.2:p.Cys542Arg
  • NC_000019.9:g.15298132A>G
  • NM_000435.2:c.1624T>C
Protein change:
C542R
Links:
dbSNP: rs2145433361
NCBI 1000 Genomes Browser:
rs2145433361
Molecular consequence:
  • NM_000435.3:c.1624T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004229486Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Pathogenic
(Jan 16, 2023) 		unknownclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Spectrum of NOTCH3 mutations in Korean patients with clinically suspicious cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

Kim YE, Yoon CW, Seo SW, Ki CS, Kim YB, Kim JW, Bang OY, Lee KH, Kim GM, Chung CS, Na DL.

Neurobiol Aging. 2014 Mar;35(3):726.e1-6. doi: 10.1016/j.neurobiolaging.2013.09.004. Epub 2013 Oct 16.

PubMed [citation]
PMID:
24139282

NOTCH3 variants in patients with subcortical vascular cognitive impairment: a comparison with typical CADASIL patients.

Yoon CW, Kim YE, Seo SW, Ki CS, Choi SH, Kim JW, Na DL.

Neurobiol Aging. 2015 Aug;36(8):2443.e1-7. doi: 10.1016/j.neurobiolaging.2015.04.009. Epub 2015 Apr 25.

PubMed [citation]
PMID:
26002683
See all PubMed Citations (5)

Details of each submission

From Athena Diagnostics, SCV004229486.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

This variant has been identified in at least one individual with clinical features of CADASIL. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). 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).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024