ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3717C>T (p.His1239=)

gnomAD frequency: 0.00030  dbSNP: rs34624018
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000305924 SCV000333819 uncertain significance not provided 2018-01-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000544982 SCV000650849 likely benign Niemann-Pick disease, type C1 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000544982 SCV001282150 uncertain significance Niemann-Pick disease, type C1 2018-01-13 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.
Pars Genome Lab RCV000544982 SCV001736768 uncertain significance Niemann-Pick disease, type C1 2021-05-18 criteria provided, single submitter clinical testing
GeneDx RCV000305924 SCV001871116 likely benign not provided 2021-02-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000305924 SCV002498356 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing NPC1: BP4, BP7
Ambry Genetics RCV002347990 SCV002620635 likely benign Inborn genetic diseases 2022-03-03 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. RCV000544982 SCV002095156 benign Niemann-Pick disease, type C1 2019-10-22 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003920049 SCV004729533 likely benign NPC1-related disorder 2019-06-10 no assertion criteria provided 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).

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