Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002430984 | SCV002742274 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-08-29 | criteria provided, single submitter | clinical testing | The p.T832S variant (also known as c.2494A>T), located in coding exon 11 of the BLM gene, results from an A to T substitution at nucleotide position 2494. The threonine at codon 832 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |