Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001204612 | SCV001375825 | pathogenic | Jeune thoracic dystrophy | 2022-11-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 935920). This variant has not been reported in the literature in individuals affected with IFT80-related conditions. This variant is present in population databases (rs779179710, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Asn654Ilefs*24) in the IFT80 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IFT80 are known to be pathogenic (PMID: 21227999, 23339108, 29068549). |