Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001014838 | SCV001175600 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-03-27 | criteria provided, single submitter | clinical testing | The c.222_230delAGAAACAGA variant (also known as p.Q74_D77delinsH) is located in coding exon 3 of the RAD50 gene. This variant results from an in-frame AGAAACAGA deletion at nucleotide positions 222 to 230. This results in the substitution of QETD residues at amino acid positions 74 to 77 for a histidine. These amino acid positions are well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al., PLoS ONE 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |