Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001230552 | SCV001403034 | pathogenic | Jeune thoracic dystrophy | 2019-09-24 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in IFT80 are known to be pathogenic (PMID: 21227999, 23339108, 29068549). This variant has not been reported in the literature in individuals with IFT80-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu396Tyrfs*17) in the IFT80 gene. It is expected to result in an absent or disrupted protein product. |