Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000527739 | SCV000641445 | uncertain significance | Gastrointestinal stromal tumor; Paragangliomas 3 | 2023-12-12 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 160 of the SDHC protein (p.Val160Met). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with pheochromocytoma (PMID: 33397043). ClinVar contains an entry for this variant (Variation ID: 465976). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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. |
| Ambry Genetics | RCV002341335 | SCV002640101 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-03-23 | criteria provided, single submitter | clinical testing | The p.V160M variant (also known as c.478G>A), located in coding exon 6 of the SDHC gene, results from a G to A substitution at nucleotide position 478. The valine at codon 160 is replaced by methionine, an amino acid with highly similar properties. This alteration has been detected in a patient with unilateral pheochromocytoma (Seo SH et al. Endocrinol Metab (Seoul), 2020 12;35:909-917). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |