Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001021342 | SCV001182948 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-08-15 | criteria provided, single submitter | clinical testing | The c.387dupA variant, located in coding exon 4 of the ATM gene, results from a duplication of A at nucleotide position 387, causing a translational frameshift with a predicted alternate stop codon (p.D130Rfs*4). 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. |