ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.2056C>T (p.Gln686Ter)

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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 RCV002871509 SCV003232064 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2022-08-24 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with EVC2-related conditions. This sequence change creates a premature translational stop signal (p.Gln686*) in the EVC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EVC2 are known to be pathogenic (PMID: 17024374, 19810119, 19876929). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic.

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