Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001010456 | SCV001170657 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-03-14 | criteria provided, single submitter | clinical testing | The c.1231_1235dupCCTTG pathogenic mutation, located in coding exon 8 of the ATM gene, results from a duplication of CCTTG at nucleotide position 1231, causing a translational frameshift with a predicted alternate stop codon (p.W412Cfs*10). 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. |