Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001023252 | SCV001185101 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-03-14 | criteria provided, single submitter | clinical testing | The p.E164Q variant (also known as c.490G>C), located in coding exon 2 of the BLM gene, results from a G to C substitution at nucleotide position 490. The glutamic acid at codon 164 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is poorly 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. |