ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser) (rs141440861)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000243260 SCV000303378 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000243260 SCV000341094 likely benign not specified 2016-04-04 criteria provided, single submitter clinical testing
Invitae RCV000697615 SCV000826236 uncertain significance Niemann-Pick disease type C1 2018-06-21 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 1073 of the NPC1 protein (p.Gly1073Ser). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs141440861, ExAC 0.2%). This variant has not been reported in the literature in individuals with NPC1-related disease. ClinVar contains an entry for this variant (Variation ID: 255696). 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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