ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2339A>C (p.Tyr780Ser)

dbSNP: rs773252806
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000792509 SCV000931812 uncertain significance Ellis-van Creveld syndrome; Curry-Hall syndrome 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with serine at codon 780 of the EVC protein (p.Tyr780Ser). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and serine. This variant is present in population databases (rs773252806, ExAC 0.002%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Natera, Inc. RCV001830687 SCV002083054 uncertain significance Ellis-van Creveld syndrome 2021-01-21 no assertion criteria provided clinical testing

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