Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000523403 | SCV000617821 | likely pathogenic | not provided | 2017-06-30 | criteria provided, single submitter | clinical testing | The W884X variant in the EVC2 gene has been reported previously in an individual with Ellis-Van Creveld syndrome who also harbored an additional variant in the EVC2 gene, although parental studies were not performed to determine the phase of these two variants (Valencia et al., 2009). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The W884X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret W884X as a likely pathogenic variant. |
| Labcorp Genetics |
RCV002525122 | SCV003525410 | pathogenic | Ellis-van Creveld syndrome; Curry-Hall syndrome | 2024-01-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp884*) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Ellis-van Creveld syndrome (PMID: 19810119). ClinVar contains an entry for this variant (Variation ID: 449552). For these reasons, this variant has been classified as Pathogenic. |