Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001010176 | SCV001170332 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-08-14 | criteria provided, single submitter | clinical testing | The c.1195_1197delGATinsAAC variant, located in coding exon 10 of the NBN gene, results from an in-frame deletion of GAT and insertion of AAC at nucleotide positions 1195 to 1197. This results in the substitution of the aspartic acid residue for an asparagine residue at codon 399, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |