Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001010674 | SCV001170906 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-02-19 | criteria provided, single submitter | clinical testing | The p.K42N variant (also known as c.126G>C), located in coding exon 1 of the RAD50 gene, results from a G to C substitution at nucleotide position 126. The lysine at codon 42 is replaced by asparagine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. 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. |