Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001021757 | SCV001183410 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-01-02 | criteria provided, single submitter | clinical testing | The p.L1351I variant (also known as c.4051T>A), located in coding exon 26 of the ATM gene, results from a T to A substitution at nucleotide position 4051. The leucine at codon 1351 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |