ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2379T>G (p.Tyr793Ter)

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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 RCV003006205 SCV003308371 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2022-02-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with EVC-related conditions. This sequence change creates a premature translational stop signal (p.Tyr793*) in the EVC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EVC are known to be pathogenic (PMID: 23220543).

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