ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2164C>T (p.Gln722Ter) (rs1553891936)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522119 SCV000620096 likely pathogenic not provided 2017-08-17 criteria provided, single submitter clinical testing The Q722X variant in the EVC gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q722X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret Q722X as a likely pathogenic variant.
Counsyl RCV000674284 SCV000799594 likely pathogenic Ellis-van Creveld syndrome 2018-04-26 criteria provided, single submitter clinical testing
Invitae RCV001050511 SCV001214626 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2019-12-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln722*) in the EVC gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with EVC-related conditions. ClinVar contains an entry for this variant (Variation ID: 451398). Loss-of-function variants in EVC are known to be pathogenic (PMID: 23220543). For these reasons, this variant has been classified as Pathogenic.

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