ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.179A>G (p.Lys60Arg)

gnomAD frequency: 0.00001  dbSNP: rs1212877946
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001300276 SCV001489413 uncertain significance Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2024-05-04 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 60 of the BAG3 protein (p.Lys60Arg). This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with BAG3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1003688). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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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