Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001222437 | SCV001394535 | uncertain significance | Infantile-onset X-linked spinal muscular atrophy | 2023-10-22 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 835 of the UBA1 protein (p.Ser835Asn). This variant is present in population databases (rs782586380, gnomAD 0.006%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with UBA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 950677). 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 tolerated. 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. |
| Ambry Genetics | RCV002451516 | SCV002739071 | uncertain significance | Inborn genetic diseases | 2021-10-16 | criteria provided, single submitter | clinical testing | The p.S835N variant (also known as c.2504G>A), located in coding exon 20 of the UBA1 gene, results from a G to A substitution at nucleotide position 2504. The serine at codon 835 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is conserved. 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. |