Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001010600 | SCV001170825 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-07-03 | criteria provided, single submitter | clinical testing | The c.1261_1262delAGinsC pathogenic mutation, located in coding exon 12 of the MLH1 gene, results from the deletion of two nucleotides and insertion of one nucleotide causing a translational frameshift with a predicted alternate stop codon (p.S421Lfs*70). 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. |