Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001023909 | SCV001185852 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-11-20 | criteria provided, single submitter | clinical testing | The p.K1772E variant (also known as c.5314A>G), located in coding exon 34 of the ATM gene, results from an A to G substitution at nucleotide position 5314. The lysine at codon 1772 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |