ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1402T>G (p.Cys468Gly)

gnomAD frequency: 0.00001  dbSNP: rs1555636685
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595856 SCV000705477 uncertain significance not provided 2017-01-26 criteria provided, single submitter clinical testing
Invitae RCV002531052 SCV003443781 uncertain significance Niemann-Pick disease, type C1 2022-04-29 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 468 of the NPC1 protein (p.Cys468Gly). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Niemann-Pick type C (PMID: 25071864, 25764212). ClinVar contains an entry for this variant (Variation ID: 499800). 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. 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.

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