Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075420 | SCV000106410 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
Ambry Genetics | RCV002408586 | SCV002718158 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-08-17 | criteria provided, single submitter | clinical testing | The c.190_191delAA pathogenic mutation, located in coding exon 2 of the MLH1 gene, results from a deletion of two nucleotides at nucleotide positions 190 to 191, causing a translational frameshift with a predicted alternate stop codon (p.N64Wfs*14). This alteration was identified in a cohort of Belgian patients suspected to have Lynch syndrome (Spaepen M et al. Fam. Cancer. 2006;5:179-89). 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, |
RCV003451081 | SCV004186352 | 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. |
Baylor Genetics | RCV003451081 | SCV004190666 | pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 | 2023-07-27 | criteria provided, single submitter | clinical testing |