Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001024071 | SCV001186027 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-07-29 | criteria provided, single submitter | clinical testing | The p.K1807Q variant (also known as c.5419A>C), located in coding exon 35 of the ATM gene, results from an A to C substitution at nucleotide position 5419. The lysine at codon 1807 is replaced by glutamine, an amino acid with similar properties. While this exact alteration has not been reported in the literature, a similar alteration at the same position, c.5419A>G, has been shown to result in reduced ATM kinase activity (Barone G et al. Hum. Mutat. 2009 Aug;30(8):1222-30). 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. |