Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000641928 | SCV000763578 | pathogenic | Gastrointestinal stromal tumor; Paragangliomas 3 | 2017-12-04 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the SDHC gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. A deletion of the entire SDHC gene has been reported in an individual affected with metastatic abdominal paraganglioma (PMID: 26162468). Loss-of-function variants in SDHC are known to be pathogenic (PMID: 19454582, 24758179). For these reasons, this variant has been classified as Pathogenic. |