ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.471G>A (p.Ala157=) (rs148985314)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535601 SCV000650665 likely benign Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 2017-08-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150178 SCV000197091 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Ala157Ala in Exon 02 of BAG3: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence. It has been identified in 0.1% (2/3710) of Afri can American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS; dbSNP rs148985314).

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