Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001018053 | SCV001179232 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-01-10 | criteria provided, single submitter | clinical testing | The c.301_303dupGTG variant (also known as p.V101dup), located in coding exon 3 of the RAD50 gene, results from an in-frame duplication of GTG at nucleotide positions 301 to 303. This results in the duplication of an extra residue between codons 101 and 102. This amino acid position is not well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |