ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1750del (p.Gln584fs)

dbSNP: rs1736000365
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001580697 SCV001810411 likely pathogenic Ellis-van Creveld syndrome 2021-07-22 criteria provided, single submitter clinical testing
Invitae RCV001882699 SCV002203093 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-12-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln584Argfs*4) 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 (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with EVC-related conditions. ClinVar contains an entry for this variant (Variation ID: 1210401). For these reasons, this variant has been classified as Pathogenic.

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