ClinVar Miner

Submissions for variant NM_006432.5(NPC2):c.278G>T (p.Cys93Phe)

gnomAD frequency: 0.00002  dbSNP: rs143960270
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001580747 SCV001810528 likely pathogenic Niemann-Pick disease, type C2 2021-07-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001580747 SCV002280013 uncertain significance Niemann-Pick disease, type C2 2022-01-13 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with phenylalanine, which is neutral and non-polar, at codon 93 of the NPC2 protein (p.Cys93Phe). This variant is present in population databases (rs143960270, gnomAD 0.004%). This missense change has been observed in individual(s) with Niemann-Pick disease type C (PMID: 12955717, 17470133). ClinVar contains an entry for this variant (Variation ID: 1210442). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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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