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NM_000435.3(NOTCH3):c.1918C>T (p.Arg640Cys) AND Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV001089755.2

Allele description [Variation Report for NM_000435.3(NOTCH3):c.1918C>T (p.Arg640Cys)]

NM_000435.3(NOTCH3):c.1918C>T (p.Arg640Cys)

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.1918C>T (p.Arg640Cys)
HGVS:
  • NC_000019.10:g.15186911G>A
  • NG_009819.1:g.19071C>T
  • NM_000435.3:c.1918C>TMANE SELECT
  • NP_000426.2:p.Arg640Cys
  • NC_000019.9:g.15297722G>A
  • NC_000019.9:g.15297722G>A
  • NM_000435.2:c.1918C>T
Protein change:
R640C
Links:
dbSNP: rs760768552
NCBI 1000 Genomes Browser:
rs760768552
Molecular consequence:
  • NM_000435.3:c.1918C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Synonyms:
Dementia, hereditary multi-infarct type; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1
Identifiers:
MONDO: MONDO:0000914; MedGen: C4551768; Orphanet: 136; OMIM: 125310

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001245246GenomeConnect - CureCADASIL
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect - CureCADASIL, SCV001245246.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Likely pathogenic and reported on 06-02-2008 by Lab or GTR ID 1012. GenomeConnect-CureCADASIL assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant.

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

Last Updated: Oct 20, 2024