ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3104C>T (p.Ala1035Val)

gnomAD frequency: 0.00001  dbSNP: rs28942107
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000790787 SCV000227757 pathogenic not provided 2012-07-02 criteria provided, single submitter clinical testing
Counsyl RCV000003106 SCV000487037 likely pathogenic Niemann-Pick disease, type C1 2016-09-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000003106 SCV001233849 pathogenic Niemann-Pick disease, type C1 2023-11-09 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1035 of the NPC1 protein (p.Ala1035Val). This variant is present in population databases (rs28942107, gnomAD 0.003%). This missense change has been observed in individual(s) with Niemann-Pick disease type C (PMID: 11479732, 16098014, 23183285; Invitae). ClinVar contains an entry for this variant (Variation ID: 2972). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt NPC1 protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000003106 SCV002811480 likely pathogenic Niemann-Pick disease, type C1 2022-02-26 criteria provided, single submitter clinical testing
OMIM RCV000003106 SCV000023264 pathogenic Niemann-Pick disease, type C1 2001-07-01 no assertion criteria provided literature only
Natera, Inc. RCV000003106 SCV002095169 pathogenic Niemann-Pick disease, type C1 2021-05-06 no assertion criteria provided clinical testing

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