Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001215579 | SCV001387331 | uncertain significance | Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma | 2021-04-28 | criteria provided, single submitter | clinical testing | This variant has been reported not to substantially affect SDHB protein function (PMID: 23175444). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has been observed in individuals affected with head and neck paraganglioma (PMID: 19351833). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with arginine at codon 260 of the SDHB protein (p.Gly260Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. |