ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.898G>A (p.Asp300Asn) (rs78439745)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183312 SCV000235740 likely benign not specified 2016-07-14 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 RCV000241816 SCV000320254 likely benign Cardiovascular phenotype 2017-06-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
Illumina Clinical Services Laboratory,Illumina RCV000323124 SCV000360587 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000361455 SCV000360588 likely benign Myofibrillar Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000469179 SCV000561196 benign Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 2017-11-27 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587296 SCV000698283 benign not provided 2017-08-03 criteria provided, single submitter clinical testing Variant summary: The BAG3 c.898G>A (p.Asp300Asn) variant involves the alteration of a conserved nucleotide. 2/4 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in 104/120524 control chromosomes (1 homozygote) from ExAC at a frequency of 0.0008629, which is approximately 22 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 have classified this variant as likely benign/benign. To our knowledge, this variant has not been reported in affected individuals via publications. Taken together, this variant is classified as benign.

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