Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004607057 | SCV005100144 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-03-18 | criteria provided, single submitter | clinical testing | The p.L319P variant (also known as c.956T>C), located in coding exon 3 of the BLM gene, results from a T to C substitution at nucleotide position 956. The leucine at codon 319 is replaced by proline, 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 alteration remains unclear. |