Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000641914 | SCV000763564 | uncertain significance | Gastrointestinal stromal tumor; Paragangliomas 3 | 2022-08-09 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 534372). 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 histidine, which is basic and polar, at codon 43 of the SDHC protein (p.Asn43His). |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001800837 | SCV002046470 | uncertain significance | not provided | 2020-12-04 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002386064 | SCV002695626 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-12-29 | criteria provided, single submitter | clinical testing | The p.N43H variant (also known as c.127A>C), located in coding exon 3 of the SDHC gene, results from an A to C substitution at nucleotide position 127. The asparagine at codon 43 is replaced by histidine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |