Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001024918 | SCV001187013 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-12-06 | criteria provided, single submitter | clinical testing | The c.6128dupG pathogenic mutation, located in coding exon 41 of the ATM gene, results from a duplication of G at nucleotide position 6128, causing a translational frameshift with a predicted alternate stop codon (p.K2044Qfs*7). 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. |
Baylor Genetics | RCV003461402 | SCV004216248 | likely pathogenic | Familial cancer of breast | 2020-12-04 | criteria provided, single submitter | clinical testing |