Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076238 | SCV000107258 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation introducing premature termination codon |
Ambry Genetics | RCV002399458 | SCV002704423 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-04-04 | criteria provided, single submitter | clinical testing | The p.E56* pathogenic mutation (also known as c.166G>T), located in coding exon 1 of the MSH2 gene, results from a G to T substitution at nucleotide position 166. This changes the amino acid from a glutamic acid to a stop codon within coding exon 1. This mutation has been reported in multiple families with Lynch syndrome (Bonadona V et al. JAMA. 2011 Jun 8;305(22):2304-10; Rossi BM et al. BMC Cancer. 2017 Sep 5;17(1):623). In addition to the clinical data presented in the literature, 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, |
RCV003452849 | SCV004187799 | 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. |