ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.449del (p.Leu150fs)

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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 RCV003782332 SCV004578030 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-12-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu150Argfs*17) 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 0.0009%). This variant has not been reported in the literature in individuals affected with EVC2-related conditions. For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, University Hospital of Duesseldorf RCV004527466 SCV005038682 likely pathogenic Curry-Hall syndrome criteria provided, single submitter not provided

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