ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.903del (p.Phe302fs)

dbSNP: rs1560208675
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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 RCV001382257 SCV001580937 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-06-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe302Serfs*11) 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 0.06%). 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: 1070195). For these reasons, this variant has been classified as Pathogenic.

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