ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.301G>T (p.Glu101Ter) (rs63750318)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000569740 SCV000662286 pathogenic Hereditary cancer-predisposing syndrome 2016-04-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076561 SCV000107591 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Invitae RCV000076561 SCV000219154 pathogenic Lynch syndrome 2014-10-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 101 (p.Glu101*). It is expected to result in an absent or disrupted protein product. Truncating sequence changes in MSH2 are known to be pathogenic. This particular truncation has been reported in an individual affected with early onset colorectal cancer (PMID: 17653898).

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