Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
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 | 2023-06-05 | 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. Loss-of-function variants in EVC are known to be pathogenic (PMID: 23220543). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 451398). This variant has not been reported in the literature in individuals affected with EVC-related conditions. This variant is not present in population databases (gnomAD no frequency). |