Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004600367 | SCV005101883 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-04-10 | criteria provided, single submitter | clinical testing | The p.P432S variant (also known as c.1294C>T), located in coding exon 6 of the BLM gene, results from a C to T substitution at nucleotide position 1294. The proline at codon 432 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |