ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.1586C>G (p.Ala529Gly)

gnomAD frequency: 0.00001  dbSNP: rs369690617
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000203813 SCV000261973 uncertain significance Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2022-10-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BAG3 protein function. ClinVar contains an entry for this variant (Variation ID: 220969). This variant is present in population databases (rs369690617, gnomAD 0.002%). This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 529 of the BAG3 protein (p.Ala529Gly).
Fulgent Genetics, Fulgent Genetics RCV000203813 SCV002786922 uncertain significance Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2021-07-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004992080 SCV005543981 uncertain significance Cardiovascular phenotype 2024-11-07 criteria provided, single submitter clinical testing The c.1586C>G (p.A529G) alteration is located in exon 4 (coding exon 4) of the BAG3 gene. This alteration results from a C to G substitution at nucleotide position 1586, causing the alanine (A) at amino acid position 529 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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