ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.209A>G (p.Asn70Ser)

gnomAD frequency: 0.00001  dbSNP: rs200291759
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731921 SCV000859791 uncertain significance not provided 2018-02-15 criteria provided, single submitter clinical testing
Invitae RCV001369012 SCV001565438 uncertain significance Niemann-Pick disease, type C1 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 70 of the NPC1 protein (p.Asn70Ser). This variant is present in population databases (rs200291759, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with NPC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 596173). 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 not expected to disrupt NPC1 protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity Omics RCV001369012 SCV003816047 uncertain significance Niemann-Pick disease, type C1 2022-12-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001369012 SCV002095231 uncertain significance Niemann-Pick disease, type C1 2020-01-22 no assertion criteria provided clinical testing

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