ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1011G>T (p.Arg337=)

gnomAD frequency: 0.00027  dbSNP: rs147795644
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000375872 SCV000342173 uncertain significance not provided 2017-12-05 criteria provided, single submitter clinical testing
Invitae RCV001081725 SCV001018112 likely benign Niemann-Pick disease, type C1 2024-01-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001081725 SCV001282368 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.
CeGaT Center for Human Genetics Tuebingen RCV000375872 SCV001746305 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing NPC1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003949911 SCV004762492 likely benign NPC1-related disorder 2022-08-26 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).
Ambry Genetics RCV004021243 SCV005034242 likely benign Inborn genetic diseases 2024-02-03 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.
Natera, Inc. RCV001081725 SCV001463710 uncertain significance Niemann-Pick disease, type C1 2019-10-28 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000375872 SCV001808513 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001699423 SCV001920257 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000375872 SCV001975169 likely benign not provided no assertion criteria provided clinical testing

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