ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser)

gnomAD frequency: 0.00105  dbSNP: rs141440861
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003891841 SCV000303378 likely benign NPC1-related condition 2019-05-20 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).
Eurofins Ntd Llc (ga) RCV000243260 SCV000341094 likely benign not specified 2016-04-04 criteria provided, single submitter clinical testing
Invitae RCV001081451 SCV000826236 likely benign Niemann-Pick disease, type C1 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000697615 SCV001151486 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing NPC1: BP4
Illumina Laboratory Services, Illumina RCV001081451 SCV001283367 uncertain significance Niemann-Pick disease, type C1 2017-04-27 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000697615 SCV002009282 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000697615 SCV001808074 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000697615 SCV001970536 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001081451 SCV002095167 likely benign Niemann-Pick disease, type C1 2020-01-19 no assertion criteria provided clinical testing

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