Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002871509 | SCV003232064 | pathogenic | Ellis-van Creveld syndrome; Curry-Hall syndrome | 2022-08-24 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with EVC2-related conditions. This sequence change creates a premature translational stop signal (p.Gln686*) 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). For these reasons, this variant has been classified as Pathogenic. |