ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3477+4A>G

gnomAD frequency: 0.00292  dbSNP: rs114073738
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000337550 SCV000337830 benign not specified 2015-11-23 criteria provided, single submitter clinical testing
Invitae RCV000876239 SCV001018785 benign Niemann-Pick disease, type C1 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000876239 SCV001282156 likely benign Niemann-Pick disease, type C1 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV001582910 SCV001813118 likely benign not provided 2019-09-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30556376, 26338816)
Ambry Genetics RCV002518955 SCV003681731 likely benign Inborn genetic diseases 2021-10-06 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 RCV001582910 SCV003917997 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing NPC1: BS2
PreventionGenetics, part of Exact Sciences RCV003930107 SCV004738486 likely benign NPC1-related disorder 2022-01-31 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. RCV000876239 SCV001463698 likely benign Niemann-Pick disease, type C1 2019-12-12 no assertion criteria provided clinical testing

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