ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2524G>A (p.Gly842Ser)

dbSNP: rs1446692986
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001971140 SCV002258133 uncertain significance Ellis-van Creveld syndrome; Curry-Hall syndrome 2022-07-26 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with EVC-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 842 of the EVC protein (p.Gly842Ser). ClinVar contains an entry for this variant (Variation ID: 1474266). 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. 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.

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