Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001021533 | SCV001183160 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-11-12 | criteria provided, single submitter | clinical testing | The c.3961dupA pathogenic mutation, located in coding exon 25 of the ATM gene, results from a duplication of A at nucleotide position 3961, causing a translational frameshift with a predicted alternate stop codon (p.M1321Nfs*3). 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. |