Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002651798 | SCV003525489 | pathogenic | Ellis-van Creveld syndrome; Curry-Hall syndrome | 2022-08-22 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with Ellis-van Creveld syndrome (PMID: 19810119). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ile237Tyrfs*5) 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). |