ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1431G>A (p.Thr477=)

gnomAD frequency: 0.00011  dbSNP: rs375307057
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596422 SCV000705975 uncertain significance not provided 2017-01-27 criteria provided, single submitter clinical testing
Invitae RCV001086155 SCV001029686 likely benign Niemann-Pick disease, type C1 2024-01-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001086155 SCV001282365 uncertain significance Niemann-Pick disease, type C1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Ambry Genetics RCV003302915 SCV003998325 likely benign Inborn genetic diseases 2023-06-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV000596422 SCV004140865 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing NPC1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003915718 SCV004727792 likely benign NPC1-related disorder 2021-06-18 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001086155 SCV002095209 likely benign Niemann-Pick disease, type C1 2021-01-07 no assertion criteria provided clinical testing

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