ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.784del (p.Leu262fs)

dbSNP: rs1560315890
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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 RCV002037830 SCV002230138 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2020-12-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu262Phefs*11) 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). 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. For these reasons, this variant has been classified as Pathogenic.

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