Submissions for variant NM_000251.3(MSH2):c.2500G>A (p.Ala834Thr)

gnomAD frequency: 0.00008  dbSNP: rs63750757

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT)	RCV000076488	SCV000107517	likely benign	Lynch syndrome	2013-09-05	reviewed by expert panel	research	Multifactorial likelihood analysis posterior probability 0.001-0.049
Ambry Genetics	RCV000131725	SCV000186765	likely benign	Hereditary cancer-predisposing syndrome	2018-11-08	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx	RCV000679306	SCV000211254	likely benign	not provided	2020-09-18	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 21120944, 17594722, 9311737, 22102614, 22949387, 30798936, 10448273, 24038355, 18547406, 11162093, 14526391, 17101317, 18951462, 16216036, 18566915, 18822302, 17192056, 21239990, 10573010, 25871441, 26951660, 15849733, 24362816, 18383312, 30998989)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084815	SCV000253156	benign	Hereditary nonpolyposis colorectal neoplasms	2024-01-24	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000131725	SCV000537488	benign	Hereditary cancer-predisposing syndrome	2022-03-10	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000679306	SCV000601467	likely benign	not provided	2022-08-10	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000659884	SCV000781776	uncertain significance	Lynch syndrome 1	2016-11-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000679306	SCV000806030	likely benign	not provided	2017-10-26	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000659884	SCV001302498	likely benign	Lynch syndrome 1	2019-07-22	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000679306	SCV001743364	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000679306	SCV001919751	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000679306	SCV001959497	likely benign	not provided		no assertion criteria provided	clinical testing