ClinVar Miner

Submissions for variant NM_001258281.1(MSH2):c.2325_2326AG[1] (p.Glu776fs) (rs587779148)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076495 SCV000107524 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation introducing premature termination codon
Counsyl RCV000410241 SCV000489727 pathogenic Lynch syndrome I 2016-11-11 criteria provided, single submitter clinical testing
Invitae RCV000524392 SCV000548299 pathogenic Hereditary nonpolyposis colorectal neoplasms 2018-05-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu842Valfs*3) 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 the literature in families affected with Lynch syndrome (PMID: 21681552, 24344984). ClinVar contains an entry for this variant (Variation ID: 90993). Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). For these reasons, this variant has been classified as Pathogenic.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000076495 SCV000592551 pathogenic Lynch syndrome 2015-05-22 criteria provided, single submitter clinical testing
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center RCV000076495 SCV000914306 pathogenic Lynch syndrome 2019-01-30 criteria provided, single submitter research

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