Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002016061 | SCV002299437 | uncertain significance | Gastrointestinal stromal tumor; Paragangliomas 3 | 2022-05-22 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 not been reported in the literature in individuals affected with SDHC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 49 of the SDHC protein (p.Asn49Ile). |
| Ambry Genetics | RCV003161185 | SCV003912552 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-03-04 | criteria provided, single submitter | clinical testing | The p.N49I variant (also known as c.146A>T), located in coding exon 3 of the SDHC gene, results from an A to T substitution at nucleotide position 146. The asparagine at codon 49 is replaced by isoleucine, an amino acid with dissimilar properties. This amino acid position is conserved. 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. |