ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.2959G>A (p.Ala987Thr)

dbSNP: rs750392808
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001328651 SCV001519815 uncertain significance Ellis-van Creveld syndrome 2019-07-24 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV005225370 SCV005864830 uncertain significance Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-12-09 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 987 of the EVC2 protein (p.Ala987Thr). This variant is present in population databases (rs750392808, gnomAD 0.009%). 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: 1027773). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Possibly Damaging". The threonine 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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