Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075692 | SCV000106695 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
Ambry Genetics | RCV002354260 | SCV002620638 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-09-27 | criteria provided, single submitter | clinical testing | The c.388delT pathogenic mutation, located in coding exon 5 of the MLH1 gene, results from a deletion of one nucleotide at nucleotide position 388, causing a translational frameshift with a predicted alternate stop codon (p.Y130Tfs*6). 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. |