ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.668C>G (p.Pro223Arg)

gnomAD frequency: 0.00002  dbSNP: rs754615028
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208205 SCV000263789 uncertain significance Primary familial hypertrophic cardiomyopathy 2015-04-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000469004 SCV000550857 uncertain significance Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2024-09-27 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 223 of the BAG3 protein (p.Pro223Arg). This variant is present in population databases (rs754615028, gnomAD 0.009%). 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: 222511). 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 disruptive. 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.
Ambry Genetics RCV002363039 SCV002665904 uncertain significance Cardiovascular phenotype 2021-12-01 criteria provided, single submitter clinical testing The p.P223R variant (also known as c.668C>G), located in coding exon 3 of the BAG3 gene, results from a C to G substitution at nucleotide position 668. The proline at codon 223 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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