ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2859C>A (p.Asp953Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003088864 SCV003485342 uncertain significance Ellis-van Creveld syndrome; Curry-Hall syndrome 2022-07-07 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 953 of the EVC protein (p.Asp953Glu). This variant is present in population databases (rs751735837, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with EVC-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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