Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001012387 | SCV001172827 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-10-13 | criteria provided, single submitter | clinical testing | The c.1635+5G>C intronic variant results from a G to C substitution 5 nucleotides after coding exon 10 in the RAD50 gene. This nucleotide position is well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to weaken the efficiency of the native splice donor site. RNA studies have demonstrated this alteration results in an in frame exon skipping event; however the significance remains uncertain (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |