ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.781C>T (p.Arg261Trp) (rs548032105)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150180 SCV000197094 likely benign not specified 2014-04-24 criteria provided, single submitter clinical testing Arg261Trp in exon 3 of BAG3: This variant is not expected to have clinical signi ficance due to a lack of conservation across species, including mammals. Of note , 9 mammals have a tryptophan (Trp) at this position despite high nearby amino a cid conservation. In addition, computational prediction tools do not suggest a h igh likelihood of impact to the protein.

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