Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000931121 | SCV001076785 | benign | Infantile-onset X-linked spinal muscular atrophy | 2022-12-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002382109 | SCV002671658 | uncertain significance | Inborn genetic diseases | 2019-11-20 | criteria provided, single submitter | clinical testing | The p.G415R variant (also known as c.1243G>A), located in coding exon 11 of the UBA1 gene, results from a G to A substitution at nucleotide position 1243. The glycine at codon 415 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is well 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. |