ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) (rs189569984)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036943 SCV000060599 likely benign not specified 2012-03-16 criteria provided, single submitter clinical testing p.Ser455Leu in exon 4 of RBM20: This variant has been reported in one individual with DCM and was absent in 1000 Caucasian and 200 African American control chro mosomes (Refaat 2011). However, this variant is not expected to have clinical si gnificance because it has been identified in 1.1% (27/2532) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS).
GeneDx RCV000036943 SCV000236307 benign not specified 2016-09-07 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.
Invitae RCV000229126 SCV000286178 benign Dilated cardiomyopathy 1DD 2020-11-22 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000036943 SCV000306787 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000242401 SCV000318448 benign Cardiovascular phenotype 2016-03-03 criteria provided, single submitter clinical testing Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000229126 SCV000605014 likely benign Dilated cardiomyopathy 1DD 2020-04-07 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000036943 SCV000740657 likely benign not specified 2016-07-26 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770279 SCV000901711 benign Cardiomyopathy 2017-10-19 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852630 SCV000995335 benign Long QT syndrome 2018-05-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000229126 SCV001260073 likely benign Dilated cardiomyopathy 1DD 2017-04-27 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000036943 SCV001362403 benign not specified 2019-08-26 criteria provided, single submitter clinical testing Variant summary: RBM20 c.1364C>T (p.Ser455Leu) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.0056 in 153884 control chromosomes, including 5 homozygotes (gnomAD). The variant was observed with even higher frequency within Non-Finnish European control individuals (0.0078) that is approximately 300 fold of the estimated maximal expected allele frequency for a pathogenic variant in RBM20 causing Cardiomyopathy phenotype (2.5e-05), strongly suggesting that the variant is a benign polymorphism. Six clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and all of them classified the variant as benign (4x) / likely benign (2x). Based on the evidence outlined above, the variant was classified as benign.
CSER _CC_NCGL, University of Washington RCV000148767 SCV000190504 uncertain significance Primary dilated cardiomyopathy 2014-06-01 no assertion criteria provided research
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000229126 SCV000732913 likely benign Dilated cardiomyopathy 1DD no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000036943 SCV001917083 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000036943 SCV001931468 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000036943 SCV001953003 benign not specified no assertion criteria provided clinical testing

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