ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1569C>G (p.Ser523=) (rs141458772)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076816 SCV000108303 likely benign Lynch syndrome 2013-09-05 reviewed by expert panel research Synonymous variant with no effect on splicing or mRNA expression (treated with NMD inhibitor)
Invitae RCV001079561 SCV000166379 benign Hereditary nonpolyposis colon cancer 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000127462 SCV000171029 benign not specified 2013-10-21 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.
Ambry Genetics RCV000162414 SCV000212753 likely benign Hereditary cancer-predisposing syndrome 2014-08-21 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)
PreventionGenetics,PreventionGenetics RCV000127462 SCV000304723 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000612133 SCV000469727 likely benign Hereditary nonpolyposis colorectal cancer type 4 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000127462 SCV000601825 benign not specified 2016-11-23 criteria provided, single submitter clinical testing
Color RCV000162414 SCV000686140 benign Hereditary cancer-predisposing syndrome 2015-04-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000127462 SCV000859782 benign not specified 2018-03-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756559 SCV000884397 likely benign not provided 2017-08-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000756559 SCV000888396 benign not provided 2016-11-23 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000756559 SCV001155030 likely benign not provided 2018-07-01 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000127462 SCV000691970 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000612133 SCV000734564 likely benign Hereditary nonpolyposis colorectal cancer type 4 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000612133 SCV000745840 likely benign Hereditary nonpolyposis colorectal cancer type 4 2015-09-07 no assertion criteria provided clinical testing
True Health Diagnostics RCV000162414 SCV000805283 likely benign Hereditary cancer-predisposing syndrome 2018-04-09 no assertion criteria provided clinical testing

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