Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075427 | SCV000106422 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
Myriad Genetics, |
RCV003451084 | SCV004189937 | pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 | 2023-07-11 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
Ambry Genetics | RCV004019102 | SCV005033255 | pathogenic | Hereditary cancer-predisposing syndrome | 2024-01-18 | criteria provided, single submitter | clinical testing | The c.191dupA pathogenic mutation, located in coding exon 2 of the MLH1 gene, results from a duplication of A at nucleotide position 191, causing a translational frameshift with a predicted alternate stop codon (p.N64Kfs*15). 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. |