Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001021023 | SCV001182585 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-10-30 | criteria provided, single submitter | clinical testing | The p.K1248R variant (also known as c.3743A>G), located in coding exon 18 of the BLM gene, results from an A to G substitution at nucleotide position 3743. The lysine at codon 1248 is replaced by arginine, an amino acid with highly 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. |