Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000570645 | SCV000664747 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-04-30 | criteria provided, single submitter | clinical testing | The c.1316_1330dup15 variant (also known as p.G439_C443dup), located in coding exon 10 of the SDHA gene, results from an in-frame duplication of 15 nucleotides at nucleotide positions 1316 to 1330. This results in the duplication of 5 extra residues (GEAAC) between codons 439 and 443. The duplicated amino acid region is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Based on the available evidence, the clinical significance of this variant remains unclear. |
| Labcorp Genetics |
RCV001858148 | SCV002297574 | uncertain significance | Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 | 2023-01-23 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 480863). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with SDHA-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.1316_1330dup, results in the insertion of 5 amino acid(s) of the SDHA protein (p.Gly439_Cys443dup), but otherwise preserves the integrity of the reading frame. |