Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001023337 | SCV001185199 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-02-27 | criteria provided, single submitter | clinical testing | The p.K1656Q variant (also known as c.4966A>C), located in coding exon 32 of the ATM gene, results from an A to C substitution at nucleotide position 4966. The lysine at codon 1656 is replaced by glutamine, an amino acid with similar properties. This amino acid position is highly 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. |