Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001020161 | SCV001181603 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-10-01 | criteria provided, single submitter | clinical testing | The c.3387delA pathogenic mutation, located in coding exon 22 of the ATM gene, results from a deletion of one nucleotide at nucleotide position 3387, causing a translational frameshift with a predicted alternate stop codon (p.G1130Efs*2). 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. |