ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.517C>A (p.Pro173Thr) (rs7908490)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036995 SCV000060651 benign not specified 2012-07-03 criteria provided, single submitter clinical testing 7.1% (98/1384) of Afr Amer chrom from ESP
GeneDx RCV000036995 SCV000171312 benign not specified 2013-04-30 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 RCV000248470 SCV000317914 benign Cardiovascular phenotype 2015-07-21 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Clinical Services Laboratory,Illumina RCV000465419 SCV000360335 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.
Invitae RCV000465419 SCV000562766 benign Dilated cardiomyopathy 1DD 2020-12-08 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770273 SCV000901705 benign Cardiomyopathy 2016-04-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000465419 SCV001159266 benign Dilated cardiomyopathy 1DD 2020-08-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000036995 SCV001361396 benign not specified 2019-09-03 criteria provided, single submitter clinical testing Variant summary: RBM20 c.517C>A (p.Pro173Thr) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.005 in 156518 control chromosomes in the gnomAD database, including 24 homozygotes. The observed variant frequency is approximately 202 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 benign. To our knowledge, no occurrence of c.517C>A in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000465419 SCV000732908 likely benign Dilated cardiomyopathy 1DD no assertion criteria provided clinical testing

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