ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.212G>A (p.Arg71Gln) (rs35434411)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000588408 SCV000602620 benign not provided 2017-05-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000248400 SCV000318146 benign Cardiovascular phenotype 2015-06-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000576846 SCV000677140 benign Myofibrillar myopathy, BAG3-related 2017-06-02 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000037889 SCV000051516 benign not specified 2013-06-24 criteria provided, single submitter research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000037889 SCV000858363 benign not specified 2017-12-11 criteria provided, single submitter clinical testing
GeneDx RCV000037889 SCV000167152 benign not specified 2014-01-22 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.
Illumina Clinical Services Laboratory,Illumina RCV000376221 SCV000360554 likely benign Myofibrillar Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000283994 SCV000360555 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588408 SCV000698278 benign not provided 2017-08-16 criteria provided, single submitter clinical testing Variant summary: The BAG3 c.212G>A (p.Arg71Gln) variant involves the alteration of a non-conserved nucleotide. 4/4 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in 2442/121378 control chromosomes (35 homozygotes) at a frequency of 0.020119, which is approximately 515 times the estimated maximal expected allele frequency of a pathogenic BAG3 variant (0.0000391), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases in ClinVar have classified this variant as benign. To our knowledge, this variant t has not been reported in affected individuals via publications, nor has it been evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
Invitae RCV000228853 SCV000288302 benign Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 2017-08-07 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037889 SCV000061551 benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Arg71Gln in Exon 02 of BAG3: This variant is not expected to have clinical sig nificance because it has been identified in 3.4% (237/7020) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs35434411).
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000037889 SCV000740455 benign not specified 2016-08-01 criteria provided, single submitter clinical testing
PreventionGenetics RCV000037889 SCV000310052 benign not specified criteria provided, single submitter clinical testing

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