NM_000435.3(NOTCH3):c.1187C>G (p.Ser396Cys) AND Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 25, 2014
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:: RCV000201951.1

Allele description

NM_000435.3(NOTCH3):c.1187C>G (p.Ser396Cys)

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.1187C>G (p.Ser396Cys)

HGVS:

NC_000019.10:g.15189278G>C
NG_009819.1:g.16704C>G
NM_000435.3:c.1187C>GMANE SELECT
NP_000426.2:p.Ser396Cys
NC_000019.9:g.15300089G>C
NM_000435.2:c.1187C>G

Protein change:

S396C

Links:

dbSNP: rs863225297

NCBI 1000 Genomes Browser:

rs863225297

Molecular consequence:

NM_000435.3:c.1187C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 (CADASIL1)
Synonyms:: Dementia, hereditary multi-infarct type
Identifiers:: MONDO: MONDO:0000914; MedGen: C4551768; Orphanet: 136; OMIM: 125310

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000256878	Mendelics	no assertion criteria provided	Pathogenic (Jul 25, 2014)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 22664156, 20301673

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000256878

Mendelics

no assertion criteria provided

Pathogenic
(Jul 25, 2014)

unknown

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Testi S, Malerba G, Ferrarini M, Ragno M, Pradotto L, Mauro A, Fabrizi GM.

J Neurol Sci. 2012 Aug 15;319(1-2):37-41. doi: 10.1016/j.jns.2012.05.025. Epub 2012 Jun 3.

PubMed [citation]

PMID:: 22664156

CADASIL.

Hack RJ, Rutten J, Lesnik Oberstein SAJ.

2000 Mar 15 [updated 2019 Mar 14]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]

PMID:: 20301673

Details of each submission

From Mendelics, SCV000256878.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 6, 2021

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