Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075350 | SCV000106344 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
Ambry Genetics | RCV002399449 | SCV002711618 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-02-22 | criteria provided, single submitter | clinical testing | The c.1749delT pathogenic mutation, located in coding exon 16 of the MLH1 gene, results from a deletion of one nucleotide at nucleotide position 1749, causing a translational frameshift with a predicted alternate stop codon (p.F583Lfs*8). This alteration has been reported in one patient from a German cohort who met Bethesda guidelines for hereditary non-polyposis colorectal cancer (HNPCC)/Lynch syndrome testing (Mangold E et al. Int. J. Cancer, 2005 Sep;116:692-702). In addition to the clinical data presented in the literature, 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. |
Myriad Genetics, |
RCV003451061 | SCV004189940 | pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 | 2023-07-21 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |