ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3560C>T (p.Ala1187Val) (rs113371321)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671937 SCV000796978 uncertain significance Niemann-Pick disease type C1 2018-01-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000729488 SCV000857156 uncertain significance not provided 2017-09-29 criteria provided, single submitter clinical testing
Invitae RCV000671937 SCV001411764 uncertain significance Niemann-Pick disease type C1 2019-12-03 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 1187 of the NPC1 protein (p.Ala1187Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs113371321, ExAC 0.05%). This variant has been observed in an individual affected with Niemann-Pick type C (PMID: 19252935). ClinVar contains an entry for this variant (Variation ID: 556002). 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"). 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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