ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.819A>G (p.Val273=) (rs146577635)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000160641 SCV000212735 likely benign Hereditary cancer-predisposing syndrome 2014-06-30 criteria provided, single submitter clinical testing
Color RCV000160641 SCV000685132 likely benign Hereditary cancer-predisposing syndrome 2015-10-16 criteria provided, single submitter clinical testing
GeneDx RCV000212592 SCV000211243 benign not specified 2014-09-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000586418 SCV000696287 benign not provided 2016-02-23 criteria provided, single submitter clinical testing Variant summary: The MSH2 c.819A>G variant affects a non-conserved nucleotide, resulting in no amino acid change. Mutation Taster predicts a damaging outcome for this variant, and 2/5 Alamut algorithms predict no significant change to normal splicing and no changes to ESE binding sites. The variant of interest has not been evaluated for functional impact by in vivo/vitro studies. This variant is found in 31/121148 control chromosomes at a frequency of 0.0002559, which does not significantly exceed maximal expected frequency of a pathogenic allele (0.0005683). However, the allele frequency in Africans (29/10308; 0.002813) is 5-fold greater than the maximal expected allele frequency for a pathogenic MSH2 variant, suggesting that this is a benign polymorphism found in Africans. In addition, clinical laboratories classified this variant as likely benign/benign. Taken together, this variant was classified as benign.
Invitae RCV000122992 SCV000166287 benign Hereditary nonpolyposis colon cancer 2018-01-11 criteria provided, single submitter clinical testing
PreventionGenetics RCV000586418 SCV000806050 likely benign not provided 2017-07-10 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000586418 SCV000888235 benign not provided 2018-01-10 criteria provided, single submitter clinical testing

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