NM_000271.4(NPC1):c.2848G>A (p.Val950Met) AND not provided

Clinical significance:Pathogenic (Last evaluated: May 27, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000212760.2

Allele description

NM_000271.4(NPC1):c.2848G>A (p.Val950Met)

Gene:
NPC1:NPC intracellular cholesterol transporter 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q11.2
Genomic location:
Preferred name:
NM_000271.4(NPC1):c.2848G>A (p.Val950Met)
Other names:
p.V950M:GTG>ATG
HGVS:
  • NC_000018.10:g.23539418C>T
  • NG_012795.1:g.52200G>A
  • NM_000271.4:c.2848G>A
  • NP_000262.2:p.Val950Met
  • NC_000018.9:g.21119382C>T
  • NM_000271.3:c.2848G>A
  • NP_000262.1:p.Val950Met
  • O15118:p.Val950Met
Protein change:
V950M; VAL950MET
Links:
UniProtKB: O15118#VAR_015563; OMIM: 607623.0015; dbSNP: rs120074135
NCBI 1000 Genomes Browser:
rs120074135
Molecular consequence:
  • NM_000271.4:c.2848G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000208908GeneDxcriteria provided, single submitter
Pathogenic
(May 27, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000208908.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The V950M variant in the NPC1 gene has been reported previously in association with Niemann-Pick disease, type C (NPC) (Millat et al., 2001; Millat et al., 2005). A patient with NPC who was homozygous for the V950M variant had adult onset of neurological symptoms (Millat et al., 2001).

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

Last Updated: Apr 17, 2019

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