Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075264 | SCV000106233 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
Ambry Genetics | RCV001012121 | SCV001172539 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-01-10 | criteria provided, single submitter | clinical testing | The c.155_158delAAGA pathogenic mutation, located in coding exon 2 of the MLH1 gene, results from a deletion of 4 nucleotides between positions 155 and 158, causing a translational frameshift with a predicted alternate stop codon. 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, |
RCV003451035 | SCV004186476 | 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. |