ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.166G>T (p.Glu56Ter)

dbSNP: rs587779102
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 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, Inc. 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.

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