Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000476432 | SCV000546023 | uncertain significance | Gastrointestinal stromal tumor; Paragangliomas 3 | 2016-07-06 | criteria provided, single submitter | clinical testing | In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a SDHC-related disease. This sequence change replaces tryptophan with leucine at codon 137 of the SDHC protein (p.Trp137Leu). The tryptophan residue is moderately conserved and there is a small physicochemical difference between tryptophan and leucine. |