ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.745C>T (p.Gln249Ter)

gnomAD frequency: 0.00001  dbSNP: rs1236566474
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667298 SCV000791729 pathogenic Ellis-van Creveld syndrome 2017-05-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001236351 SCV001409073 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-09-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln249*) 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 present in population databases (no rsID available, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with autosomal recessive Ellis-van Creveld syndrome (PMID: 17024374, 19810119). ClinVar contains an entry for this variant (Variation ID: 552093). For these reasons, this variant has been classified as Pathogenic.

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