Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000798825 | SCV000938458 | pathogenic | Gastrointestinal stromal tumor; Paragangliomas 3 | 2022-03-18 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 5 of the SDHC gene. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to disrupt the C-terminus of the protein. A similar copy number variant has been observed in individuals with clinical features of SDHC-related conditions and/or head and neck paraganglioma (PMID: 19351833; Invitae). For these reasons, this variant has been classified as Pathogenic. |