Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001047698 | SCV001211676 | pathogenic | Parathyroid carcinoma | 2019-11-29 | criteria provided, single submitter | clinical testing | Loss-of-function variants in CDC73 are known to be pathogenic (PMID: 12434154). This variant has not been reported in the literature in individuals with CDC73-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr334Metfs*29) in the CDC73 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. |