Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076730 | SCV000107768 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
Ambry Genetics | RCV000491146 | SCV000580474 | pathogenic | Hereditary cancer-predisposing syndrome | 2015-12-14 | criteria provided, single submitter | clinical testing | The p.E28* pathogenic mutation (also known as c.82G>T), located in coding exon 1 of the MSH2 gene, results from a G to T substitution at nucleotide position 82. This changes the amino acid from a glutamic acid to a stop codon within coding exon 1. This truncating mutation was identified once in a cohort of 1,721 German families suspected of hereditary nonpolyposis colorectal cancer and in another report, one proband had a colorectal tumor that demonstrated high microsatellite instability with loss of MSH2 staining on immunohistochemistry (Mangold E et al, Int. J. Cancer 2005 Sep; 116(5):692-702; Mangold E et al. J Pathol, 2005 Dec;207:385-95). In addition to the clinical data presented in the literature, since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). |
Myriad Genetics, |
RCV003452968 | SCV004187798 | pathogenic | Lynch syndrome 1 | 2023-07-26 | 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. |