Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001016078 | SCV001176991 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-07-08 | criteria provided, single submitter | clinical testing | The p.D868V variant (also known as c.2603A>T), located in coding exon 16 of the ATM gene, results from an A to T substitution at nucleotide position 2603. The aspartic acid at codon 868 is replaced by valine, an amino acid with highly dissimilar properties. This amino acid position is well 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. |