Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075558 | SCV000106555 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon with functional domain |
Ambry Genetics | RCV002426630 | SCV002727016 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-03-27 | criteria provided, single submitter | clinical testing | The c.2154_2155delCA pathogenic mutation, located in coding exon 19 of the MLH1 gene, results from a deletion of two nucleotides at nucleotide positions 2154 to 2155, causing a translational frameshift with a predicted alternate stop codon (p.I719Cfs*3). This variant has been reported in one Portuguese family meeting Amsterdam I criteria and in an individual diagnosed with MSI-H colorectal cancer showing loss of MLH1 on immunohistochemistry and having a family history of colorectal cancer (Isidro G et al. Hum. Mutat., 2003 Nov;22:419-20; Bonnet D et al. Dig Liver Dis, 2012 Jun;44:515-22).This alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a disease-causing mutation. |
Myriad Genetics, |
RCV003451112 | SCV004189962 | pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 | 2023-07-25 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |