ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.34dup (p.Glu12fs) (rs63750614)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076570 SCV000107601 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Ambry Genetics RCV000221149 SCV000276142 pathogenic Hereditary cancer-predisposing syndrome 2016-09-02 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),Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Invitae RCV000554624 SCV000625418 pathogenic Hereditary nonpolyposis colon cancer 2017-05-16 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 1 of the MSH2 mRNA (c.34dupG), causing a frameshift at codon 12. This creates a premature translational stop signal (p.Glu12Glyfs*70) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH2 are known to be pathogenic. This particular variant has been reported in the literature in multiple families affected with colorectal cancer (PMID: 14504054) and in an individual affected with Muir-Torre syndrome (PMID: 21550136). For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000202253 SCV000257186 pathogenic not provided no assertion criteria provided research

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