ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2146C>T (p.Gln716Ter)

dbSNP: rs1714412021
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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 RCV001223333 SCV001395476 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2019-07-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln716*) in the EVC gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with EVC-related conditions. Loss-of-function variants in EVC are known to be pathogenic (PMID: 23220543). For these reasons, this variant has been classified as Pathogenic.

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