ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1978G>A (p.Gly660Ser)

dbSNP: rs1555634490
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674977 SCV000800397 uncertain significance Niemann-Pick disease, type C1 2018-06-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000674977 SCV003442631 uncertain significance Niemann-Pick disease, type C1 2021-12-24 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 660 of the NPC1 protein (p.Gly660Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Niemann-Pick disease type C (PMID: 12955717). ClinVar contains an entry for this variant (Variation ID: 558673). 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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