ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.1220C>T (p.Pro407Leu) (rs3858340)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000254249 SCV000317752 benign Cardiovascular phenotype 2015-03-11 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 RCV000576368 SCV000677138 benign Myofibrillar myopathy, BAG3-related 2017-06-02 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000037885 SCV000051517 benign not specified 2013-06-24 criteria provided, single submitter research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000037885 SCV000112804 benign not specified 2013-03-12 criteria provided, single submitter clinical testing
GeneDx RCV000037885 SCV000167159 benign not specified 2014-01-20 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 RCV000331449 SCV000360593 benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000388289 SCV000360594 benign Myofibrillar Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588620 SCV000698275 benign not provided 2017-08-04 criteria provided, single submitter clinical testing Variant summary: The BAG3 c.1220C>T (p.Pro407Leu) variant involves the alteration of a conserved nucleotide. 2/4 in silico tools predict benign outcome for this variant (Mutation Taster not captured due to low reliability index). This variant was found in 13824/121204 control chromosomes (1012 homozygotes) from ExAC at a frequency of 0.1140556, which is approximately 2920 times the estimated maximal expected allele frequency of a pathogenic BAG3 variant (0.0000391), thus this variant is a common benign polymorphism. In addition, multiple clinical diagnostic laboratories have classified this variant as benign. In literature, this variant has been reported in one DCM patient who also carried a rare variant p.I206V and was classified as a known polymorphism (Ruppert_2013). Taken together, this variant is classified as benign.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037885 SCV000061547 benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Pro407Leu in Exon 04 of BAG3: This variant is not expected to have clinical si gnificance because it has been identified in 17.0% (636/3738) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs3858340).
PreventionGenetics RCV000037885 SCV000310048 benign not specified criteria provided, single submitter clinical testing

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