Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001021058 | SCV001182625 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-08-30 | criteria provided, single submitter | clinical testing | The c.3755dupA variant, located in coding exon 25 of the ATM gene, results from a duplication of A at nucleotide position 3755, causing a translational frameshift with a predicted alternate stop codon (p.Y1252*). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |