ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.719T>G (p.Phe240Cys)

dbSNP: rs2152000493
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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 RCV002044165 SCV002112446 uncertain significance Ellis-van Creveld syndrome; Curry-Hall syndrome 2020-11-16 criteria provided, single submitter clinical testing 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with EVC-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces phenylalanine with cysteine at codon 240 of the EVC protein (p.Phe240Cys). The phenylalanine residue is weakly conserved and there is a large physicochemical difference between phenylalanine and cysteine.

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