Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000542616 | SCV000641446 | uncertain significance | Gastrointestinal stromal tumor; Paragangliomas 3 | 2023-05-30 | criteria provided, single submitter | clinical testing | 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. 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. ClinVar contains an entry for this variant (Variation ID: 465977). 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 alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 2 of the SDHC protein (p.Ala2Thr). |
| Ambry Genetics | RCV003159828 | SCV003911252 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-01-10 | criteria provided, single submitter | clinical testing | The p.A2T variant (also known as c.4G>A), located in coding exon 1 of the SDHC gene, results from a G to A substitution at nucleotide position 4. The alanine at codon 2 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Baylor Genetics | RCV003476281 | SCV004203065 | uncertain significance | Gastrointestinal stromal tumor | 2023-08-17 | criteria provided, single submitter | clinical testing |