Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000646712 | SCV000768491 | pathogenic | Orofaciodigital syndrome type 6; Joubert syndrome 17 | 2017-11-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg2929*) in the C5orf42 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with C5orf42-related disease. Loss-of-function variants in C5orf42 are known to be pathogenic (PMID: 22425360). For these reasons, this variant has been classified as Pathogenic. |