ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.1669G>A (p.Ala557Thr)

dbSNP: rs1847253063
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001219195 SCV001391120 uncertain significance Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2019-04-05 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 557 of the BAG3 protein (p.Ala557Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BAG3-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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