ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.3218T>C (p.Val1073Ala)

gnomAD frequency: 0.00022  dbSNP: rs149527560
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001240357 SCV001413293 uncertain significance Ellis-van Creveld syndrome; Curry-Hall syndrome 2022-10-18 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 1073 of the EVC2 protein (p.Val1073Ala). This variant is present in population databases (rs149527560, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with EVC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 965821). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine 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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