Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001930679 | SCV002193571 | uncertain significance | Infantile-onset X-linked spinal muscular atrophy | 2023-02-01 | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1414862). This variant has not been reported in the literature in individuals affected with UBA1-related conditions. This variant is present in population databases (rs199512751, gnomAD 0.008%), including at least one homozygous and/or hemizygous individual. This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 261 of the UBA1 protein (p.Gly261Arg). |
| Ambry Genetics | RCV002407071 | SCV002673349 | uncertain significance | Inborn genetic diseases | 2022-05-04 | criteria provided, single submitter | clinical testing | The p.G261R variant (also known as c.781G>A), located in coding exon 7 of the UBA1 gene, results from a G to A substitution at nucleotide position 781. The glycine at codon 261 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is 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. |