Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000414626 | SCV000491594 | likely pathogenic | not provided | 2016-10-06 | criteria provided, single submitter | clinical testing | The novel C88X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The C88X nonsense variant in the EVC2 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The C88X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Multiple nonsense variants (Q159X, W215X, Q249X) have been reported in the Human Gene Mutation Database in association with Ellis-Van Creveld syndrome (Stenson et al., 2014). |
| Labcorp Genetics |
RCV001861425 | SCV002232724 | pathogenic | Ellis-van Creveld syndrome; Curry-Hall syndrome | 2023-11-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Cys88*) 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 0.008%). 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: 373035). For these reasons, this variant has been classified as Pathogenic. |
| Counsyl | RCV000670598 | SCV000795470 | likely pathogenic | Ellis-van Creveld syndrome | 2017-11-08 | no assertion criteria provided | clinical testing |