Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075483 | SCV000106479 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
Ambry Genetics | RCV002415532 | SCV002724314 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-02-23 | criteria provided, single submitter | clinical testing | The p.E671* pathogenic mutation (also known as c.2011G>T), located in coding exon 18 of the MLH1 gene, results from a G to T substitution at nucleotide position 2011. This changes the amino acid from a glutamic acid to a stop codon within coding exon 18. 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, |
RCV003451094 | SCV004188881 | 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 termination codon and is predicted to result in premature protein truncation. |
Constitutional Genetics Lab, |
RCV001249947 | SCV001423889 | pathogenic | Lynch-like syndrome | 2019-07-01 | no assertion criteria provided | clinical testing |