ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2879C>G (p.Thr960Ser)

dbSNP: rs780548102
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001308614 SCV001498074 uncertain significance Ellis-van Creveld syndrome; Curry-Hall syndrome 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 960 of the EVC protein (p.Thr960Ser). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with EVC-related conditions. ClinVar contains an entry for this variant (Variation ID: 1010896). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. RCV001830245 SCV002083067 uncertain significance Ellis-van Creveld syndrome 2021-07-26 no assertion criteria provided clinical testing

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