ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.142G>T (p.Glu48Ter) (rs63750615)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076158 SCV000107174 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation introducing premature termination codon
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000076158 SCV000592452 pathogenic Lynch syndrome 2016-02-10 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506167 SCV000604262 pathogenic not specified 2016-11-26 criteria provided, single submitter clinical testing
Invitae RCV000537461 SCV000625261 pathogenic Hereditary nonpolyposis colon cancer 2019-02-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu48*) in the MSH2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several families affected with Lynch syndrome (PMID: 19419416, 20587412, 22371642). ClinVar contains an entry for this variant (Variation ID: 90662). Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000662482 SCV000784980 pathogenic Lynch syndrome I 2017-10-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV001011543 SCV001171876 pathogenic Hereditary cancer-predisposing syndrome 2018-01-31 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000582377 SCV000691895 pathogenic not provided no assertion criteria provided clinical testing

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