Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV003886805 | SCV004704114 | uncertain significance | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | ATR: PM2 |
Ambry Genetics | RCV004369708 | SCV005016921 | uncertain significance | Inborn genetic diseases | 2021-08-05 | criteria provided, single submitter | clinical testing | The p.H1558D variant (also known as c.4672C>G), located in coding exon 27 of the ATR gene, results from a C to G substitution at nucleotide position 4672. The histidine at codon 1558 is replaced by aspartic acid, an amino acid with 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. |