ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2152C>T (p.Gln718Ter) (rs587779139)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076411 SCV000107440 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation introducing premature termination codon
Ambry Genetics RCV000214955 SCV000276621 pathogenic Hereditary cancer-predisposing syndrome 2018-08-29 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Invitae RCV000627699 SCV000548243 pathogenic Hereditary nonpolyposis colorectal neoplasms 2019-06-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 718 (p.Gln718*) of the MSH2 gene. It is expected to result in an absent or disrupted protein product. Truncating variants in MSH2 are known to be pathogenic. This particular truncation has been reported in several individuals and families with Lynch syndrome (PMID: 10612836, 21681552, 15222003, 11910346, 26289772, 26437257). For these reasons, this variant has been classified as Pathogenic.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000076411 SCV000592540 pathogenic Lynch syndrome criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506389 SCV000601458 pathogenic not provided 2016-08-12 criteria provided, single submitter clinical testing
Mendelics RCV000076411 SCV000837850 pathogenic Lynch syndrome 2018-07-02 criteria provided, single submitter clinical testing
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center RCV000076411 SCV000914305 pathogenic Lynch syndrome 2019-01-30 criteria provided, single submitter research
Color RCV000214955 SCV001345240 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing

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