ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.2161del (p.Leu721fs)

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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 RCV002695998 SCV002995473 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2022-06-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu721Trpfs*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). 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).

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