Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001020471 | SCV001181956 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-04-10 | criteria provided, single submitter | clinical testing | The p.C1168S variant (also known as c.3502T>A), located in coding exon 23 of the ATM gene, results from a T to A substitution at nucleotide position 3502. The cysteine at codon 1168 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |