Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
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. |
Ambry Genetics | RCV004659040 | SCV005161243 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-04-30 | criteria provided, single submitter | clinical testing | The p.W137L variant (also known as c.410G>T), located in coding exon 6 of the SDHC gene, results from a G to T substitution at nucleotide position 410. The tryptophan at codon 137 is replaced by leucine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |