Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075484 | SCV000106480 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
Ambry Genetics | RCV000576150 | SCV000676061 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-03-09 | criteria provided, single submitter | clinical testing | The c.201delG pathogenic mutation, located in coding exon 2 of the MLH1 gene, results from a deletion of one nucleotide at position 201, causing a translational frameshift with a predicted alternate stop codon (p.I68Sfs*24). 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, |
RCV003455991 | SCV004186487 | 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. |