ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.3523_3527dup (p.Gln1179fs)

gnomAD frequency: 0.00001  dbSNP: rs1560126707
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001917989 SCV002171999 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2021-11-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with EVC2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Gln1179Argfs*19) 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).

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