Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| International Society for Gastrointestinal Hereditary Tumours |
RCV000075076 | SCV000106066 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
| Ambry Genetics | RCV001017045 | SCV001178068 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-03-27 | criteria provided, single submitter | clinical testing | The c.1023delG pathogenic mutation, located in coding exon 11 of the MLH1 gene, results from a deletion of one nucleotide at nucleotide position 1023, causing a translational frameshift with a predicted alternate stop codon (p.M342Cfs*25). This alteration has been identified in multiple individuals meeting clinical criteria (Amsterdam/ Amsterdam II) for a diagnosis of Lynch syndrome, including individuals from Portugal, Germany, and Latin America (Isidro G et al. Hum. Mutat., 2003 Nov;22:419-20; Lage PA et al. Cancer, 2004 Jul;101:172-7; Krüger S et al. Hum. Mutat., 2004 Oct;24:351-2; Mangold E et al. Int. J. Cancer, 2005 Sep;116:692-702; Rossi BM et al. BMC Cancer, 2017 Sep;17:623). This alteration is also denoted as c.1022delG and p.Arg341fs (p.R341Xfs or p.R341fsX366) in the published literature. 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, |
RCV003450997 | SCV004186517 | pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 | 2023-07-19 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |