ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.789G>A (p.Leu263=)

dbSNP: rs755394319
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000218997 SCV000274876 likely benign Hereditary cancer-predisposing syndrome 2015-03-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Counsyl RCV000409199 SCV000489629 likely benign Lynch syndrome 4 2016-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000551428 SCV000522210 likely benign not provided 2021-03-09 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000218997 SCV000904183 likely benign Hereditary cancer-predisposing syndrome 2018-03-13 criteria provided, single submitter clinical testing
Invitae RCV001408630 SCV001610634 likely benign Hereditary nonpolyposis colorectal neoplasms 2022-09-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818524 SCV002068676 likely benign not specified 2019-03-13 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV001818524 SCV002550736 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000409199 SCV004019846 benign Lynch syndrome 4 2023-04-04 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
CeGaT Center for Human Genetics Tuebingen RCV000551428 SCV004163709 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing PMS2: BP4, BP7

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