Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075480 | SCV000106476 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
Ambry Genetics | RCV000214195 | SCV000275765 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-09-26 | criteria provided, single submitter | clinical testing | The c.2006_2010delAAAAG pathogenic mutation, located in coding exon 18 of the MLH1 gene, results from a deletion of 5 nucleotides at nucleotide positions 2006 to 2010, causing a translational frameshift with a predicted alternate stop codon (p.E669Gfs*4). This alteration has been identified in a Japanese female with rectal cancer at age 40y as well as right sided MSI-H colon cancer at age 52y (Tomita N, et al. Jpn. J. Clin. Oncol. 2004 Sep; 34(9):556-60). 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, |
RCV003451093 | SCV004189911 | 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. |