Submissions for variant NM_004281.3(BAG3):c.773G>A (p.Arg258Gln) (rs746551805)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000648845	SCV000770666	uncertain significance	Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH	2017-12-11	criteria provided, single submitter	clinical testing	This sequence change replaces arginine with glutamine at codon 258 of the BAG3 protein (p.Arg258Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs746551805, ExAC 0.009%). This variant has not been reported in the literature in individuals with BAG3-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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