ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1990G>A (p.Val664Met) (rs376213990)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411001 SCV000485959 likely pathogenic Niemann-Pick disease type C1 2016-03-08 criteria provided, single submitter clinical testing
Invitae RCV000411001 SCV001214437 pathogenic Niemann-Pick disease type C1 2019-12-02 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 664 of the NPC1 protein (p.Val664Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs376213990, ExAC 0.002%). This variant has been observed in individual(s) with Niemann-Pick type C (PMID: 26937389, 28222799, 25236789, 20718790). ClinVar contains an entry for this variant (Variation ID: 370601). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.

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