ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.3751G>T (p.Glu1251Ter)

dbSNP: rs769520928
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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 RCV001304603 SCV001493891 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2020-11-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1251*) in the EVC2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 58 amino acid(s) of the EVC2 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of Weyers acrodental dysostosis (Invitae). In at least one individual the variant was observed to be de novo. For these reasons, this variant has been classified as Pathogenic.

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