ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2029C>T (p.Gln677Ter)

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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 RCV003090305 SCV003479251 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-09-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 2166067). This variant has not been reported in the literature in individuals affected with EVC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln677*) 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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