Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002451942 | SCV002612589 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-01-05 | criteria provided, single submitter | clinical testing | The p.F1131L variant (also known as c.3393T>G), located in coding exon 17 of the BLM gene, results from a T to G substitution at nucleotide position 3393. The phenylalanine at codon 1131 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |