Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001020615 | SCV001182117 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-07-01 | criteria provided, single submitter | clinical testing | The p.D1188V variant (also known as c.3563A>T), located in coding exon 18 of the BLM gene, results from an A to T substitution at nucleotide position 3563. The aspartic acid at codon 1188 is replaced by valine, an amino acid with highly dissimilar properties. This amino acid position is well 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. |