NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys) AND not provided

Clinical significance:Pathogenic (Last evaluated: Oct 1, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000415985.5

Allele description [Variation Report for NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys)]

NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys)

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.1819C>T (p.Arg607Cys)
HGVS:
  • NC_000019.10:g.15187126G>A
  • NG_009819.1:g.18856C>T
  • NM_000435.3:c.1819C>TMANE SELECT
  • NP_000426.2:p.Arg607Cys
  • NC_000019.9:g.15297937G>A
  • NM_000435.2:c.1819C>T
Protein change:
R607C
Links:
dbSNP: rs777751303
NCBI 1000 Genomes Browser:
rs777751303
Molecular consequence:
  • NM_000435.3:c.1819C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
4

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000493485CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Pathogenic
(Oct 1, 2019)
germlineclinical testing

Citation Link,

SCV000614242Athena Diagnostics Inccriteria provided, single submitter
Pathogenic
(Jun 12, 2019)
germlineclinical testing

PubMed (10)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes4not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

The influence of genetic and cardiovascular risk factors on the CADASIL phenotype.

Singhal S, Bevan S, Barrick T, Rich P, Markus HS.

Brain. 2004 Sep;127(Pt 9):2031-8. Epub 2004 Jun 30.

PubMed [citation]
PMID:
15229130

Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C content.

Escary JL, C├ęcillon M, Maciazek J, Lathrop M, Tournier-Lasserve E, Joutel A.

Hum Mutat. 2000 Dec;16(6):518-26.

PubMed [citation]
PMID:
11102981
See all PubMed Citations (10)

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV000493485.12

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided4not providednot providednot provided

From Athena Diagnostics Inc, SCV000614242.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (10)

Description

The variant disrupts a cysteine residue in an EGF-like repeat domain, which are important for the structure of this protein. Therefore it is expected to severely affect the function of the protein. Found in at least one symptomatic patient, and found in general population data that is consistent with pathogenicity.

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

Last Updated: Jul 10, 2021

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