Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002445908 | SCV002678370 | uncertain significance | Inborn genetic diseases | 2022-02-03 | criteria provided, single submitter | clinical testing | The p.V281E variant (also known as c.842T>A), located in coding exon 4 of the ATR gene, results from a T to A substitution at nucleotide position 842. The valine at codon 281 is replaced by glutamic acid, an amino acid with dissimilar 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. |
Ce |
RCV003992637 | SCV004810640 | uncertain significance | not provided | 2024-03-01 | criteria provided, single submitter | clinical testing | ATR: PM2, BP4 |