ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.876_892dup (p.His298fs)

dbSNP: rs2108900159
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001597528 SCV001832285 likely pathogenic not provided 2019-11-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002592515 SCV003246618 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-04-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His298Argfs*21) 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). This premature translational stop signal has been observed in individual(s) with clinical features of Ellis-van Creveld syndrome (PMID: 34627339). ClinVar contains an entry for this variant (Variation ID: 1224461). For these reasons, this variant has been classified as Pathogenic.

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