NM_000435.3(NOTCH3):c.634T>A (p.Cys212Ser) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 27, 2017
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:: RCV000517695.2

Allele description [Variation Report for NM_000435.3(NOTCH3):c.634T>A (p.Cys212Ser)]

NM_000435.3(NOTCH3):c.634T>A (p.Cys212Ser)

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.634T>A (p.Cys212Ser)

HGVS:

NC_000019.10:g.15192005A>T
NG_009819.1:g.13977T>A
NM_000435.3:c.634T>AMANE SELECT
NP_000426.2:p.Cys212Ser
NC_000019.9:g.15302816A>T
NM_000435.2:c.634T>A

Protein change:

C212S

Links:

dbSNP: rs1555729455

NCBI 1000 Genomes Browser:

rs1555729455

Molecular consequence:

NM_000435.3:c.634T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000614324	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Pathogenic (Jul 27, 2017)	germline	clinical testing	PubMed (9) [See all records that cite these PMIDs] 14714274, 21217157, 18273901, 11755616, 15857853, 10854111, 11102981, 9388399, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000614324

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Pathogenic
(Jul 27, 2017)

germline

clinical testing

PubMed (9)
[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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Pathogenic mutations associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy differently affect Jagged1 binding and Notch3 activity via the RBP/JK signaling Pathway.

Joutel A, Monet M, Domenga V, Riant F, Tournier-Lasserve E.

Am J Hum Genet. 2004 Feb;74(2):338-47. Epub 2004 Jan 8.

PubMed [citation]

PMID:: 14714274
PMCID:: PMC1181931

CADASIL with cord involvement associated with a novel and atypical NOTCH3 mutation.

Bentley P, Wang T, Malik O, Nicholas R, Ban M, Sawcer S, Sharma P.

J Neurol Neurosurg Psychiatry. 2011 Aug;82(8):855-60. doi: 10.1136/jnnp.2010.223297. Epub 2011 Jan 8.

PubMed [citation]

PMID:: 21217157

See all PubMed Citations (9)

Details of each submission

From Athena Diagnostics, SCV000614324.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (9)

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

Last Updated: May 7, 2024

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