ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.3598C>T (p.Arg1200Ter)

dbSNP: rs1305301849
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669199 SCV000793928 likely pathogenic Ellis-van Creveld syndrome 2017-09-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001216770 SCV001388582 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-11-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1200*) 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 EVC2-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 553692). For these reasons, this variant has been classified as Pathogenic.

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