Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075421 | SCV000106416 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
Ambry Genetics | RCV002408587 | SCV002719983 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-06-17 | criteria provided, single submitter | clinical testing | The c.1913_1926dup14 pathogenic mutation, located in coding exon 17 of the MLH1 gene, results from a duplication of 14 nucleotides at nucleotide positions 1913 to 1926, causing a translational frameshift with a predicted alternate stop codon (p.I643Dfs*5). 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, |
RCV003451082 | SCV004186303 | pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 | 2023-07-24 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
Mayo Clinic Laboratories, |
RCV000202103 | SCV000257073 | likely pathogenic | not provided | no assertion criteria provided | research |