Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000561122 | SCV000671864 | uncertain significance | Hereditary cancer-predisposing syndrome | 2017-07-14 | criteria provided, single submitter | clinical testing | The p.L1116F variant (also known as c.3346C>T), located in coding exon 21 of the RAD50 gene, results from a C to T substitution at nucleotide position 3346. The leucine at codon 1116 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is highly 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. |