ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.3454_3461dup (p.Gln1154fs)

dbSNP: rs1722451930
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001059845 SCV001224494 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2021-12-22 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 854737). 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 not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1154Hisfs*45) 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).
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV002240379 SCV002512106 pathogenic Ellis-van Creveld syndrome 2022-04-01 criteria provided, single submitter clinical testing

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