Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001204407 | SCV001375613 | pathogenic | Ellis-van Creveld syndrome; Curry-Hall syndrome | 2020-11-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln277*) in the EVC gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in EVC are known to be pathogenic (PMID: 23220543). This variant has been observed in an individual affected with Ellis-van Creveld syndrome (PMID: 23220543). This variant is not present in population databases (ExAC no frequency). |