Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001024295 | SCV001186282 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-01-09 | criteria provided, single submitter | clinical testing | The c.557dupT pathogenic mutation, located in coding exon 5 of the ATM gene, results from a duplication of T at nucleotide position 557, causing a translational frameshift with a predicted alternate stop codon (p.L186Ffs*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. |