Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001013432 | SCV001174015 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-06-20 | criteria provided, single submitter | clinical testing | The p.K621R variant (also known as c.1862A>G), located in coding exon 11 of the ATM gene, results from an A to G substitution at nucleotide position 1862. The lysine at codon 621 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is not 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. |