ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.476C>T (p.Ala159Val)

dbSNP: rs2059038990
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001071922 SCV001237254 uncertain significance Niemann-Pick disease, type C1 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 159 of the NPC1 protein (p.Ala159Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with NPC1-related conditions. 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Natera, Inc. RCV001071922 SCV001459996 uncertain significance Niemann-Pick disease, type C1 2020-09-16 no assertion criteria provided clinical testing

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