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NM_006432.4(NPC2):c.199T>C (p.Ser67Pro)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Jan 8, 2013)
Last evaluated:
Jul 22, 2008
Accession:
VCV000008482.1
Variation ID:
8482
Description:
single nucleotide variant
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NM_006432.4(NPC2):c.199T>C (p.Ser67Pro)

Allele ID
23521
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q24.3
Genomic location
14: 74484579 (GRCh38) GRCh38 UCSC
14: 74951282 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.74951282A>G
NC_000014.9:g.74484579A>G
NM_001363688.1:c.199T>C NP_001350617.1:p.Ser67Pro missense
... more HGVS
Protein change
S67P
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA340793
UniProtKB: P61916#VAR_015849
OMIM: 601015.0006
dbSNP: rs11694
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 no assertion criteria provided Jul 22, 2008 RCV000009003.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NPC2 - - GRCh38
GRCh37
54 71

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
pathologic
(Jul 22, 2008)
no assertion criteria provided
Method: curation
Niemann-Pick Disease Type C
Allele origin: not provided
GeneReviews
Accession: SCV000041169.1
Submitted: (Jan 08, 2013)
Evidence details
Comment:
Converted during submission to Pathogenic.
Pathogenic
(Nov 01, 2001)
no assertion criteria provided
Method: literature only
NIEMANN-PICK DISEASE, TYPE C2
Allele origin: germline
OMIM
Accession: SCV000029217.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Niemann-Pick Disease Type C Patterson M - 2019 PMID: 20301473
Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations. Chikh K Human mutation 2005 PMID: 15937921
Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group. Millat G American journal of human genetics 2001 PMID: 11567215

Record last updated Oct 27, 2019