Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004952624 | SCV005553815 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-10-06 | criteria provided, single submitter | clinical testing | The p.T369S variant (also known as c.1105A>T), located in coding exon 13 of the CDC73 gene, results from an A to T substitution at nucleotide position 1105. The threonine at codon 369 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear. |