ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1228G>T (p.Glu410Ter)

dbSNP: rs2152076522
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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 RCV001385913 SCV001585931 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-02-16 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1073032). 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.Glu410*) 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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