Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001239727 | SCV001412621 | pathogenic | Familial aplasia of the vermis; Orofaciodigital syndrome I | 2019-11-11 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in OFD1 are known to be pathogenic (PMID: 16783569, 18546297, 27081566). This variant has not been reported in the literature in individuals with OFD1-related conditions. This sequence change creates a premature translational stop signal (p.Ser266Glufs*4) in the OFD1 gene. It is expected to result in an absent or disrupted protein product. |