ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.62dup (p.Ala22fs)

gnomAD frequency: 0.00001  dbSNP: rs1430962566
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670871 SCV000795784 likely pathogenic Ellis-van Creveld syndrome 2017-11-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001387440 SCV001588057 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-09-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala22Glyfs*34) 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 variant has not been reported in the literature in individuals affected with EVC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 555118). For these reasons, this variant has been classified as Pathogenic.

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