ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.1700C>T (p.Ser567Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003060644 SCV003450308 uncertain significance Ellis-van Creveld syndrome; Curry-Hall syndrome 2021-11-22 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 567 of the EVC2 protein (p.Ser567Phe). This variant is present in population databases (rs775103557, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with EVC2-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: "Tolerated"; PolyPhen-2: "Possibly 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.

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