ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.187C>G (p.Pro63Ala) (rs144041999)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618458 SCV000735217 benign Cardiovascular phenotype 2015-10-20 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)
Integrated Genetics/Laboratory Corporation of America RCV000587026 SCV000698277 benign not provided 2017-08-16 criteria provided, single submitter clinical testing Variant summary: The BAG3 c.187C>G (p.Pro63Ala) variant involves the alteration of a non-conserved nucleotide. 4/5 in silico tools predict benign outcome for this variant. This variant was found in 191/121304 control chromosomes (2 homozygotes), predominantly observed in the African subpopulation at a frequency of 0.011019 (114/10346). This frequency is about 282 times the estimated maximal expected allele frequency of a pathogenic BAG3 variant (0.0000391), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. To our knowledge, this variant 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 RCV000233885 SCV000288301 benign Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 2018-01-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154682 SCV000204360 benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Pro63Ala in Exon 02 of BAG3: This variant is not expected to have clinical sig nificance because it has been identified in 1.0% (39/3738) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs144041999).
PreventionGenetics RCV000154682 SCV000310051 benign not specified criteria provided, single submitter clinical testing

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