ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.1673C>T (p.Ala558Val)

gnomAD frequency: 0.00002  dbSNP: rs185537639
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001210448 SCV001381936 uncertain significance Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2023-07-17 criteria provided, single submitter clinical testing 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. This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 558 of the BAG3 protein (p.Ala558Val). This variant is present in population databases (rs185537639, gnomAD 0.006%). This missense change has been observed in individual(s) with myofibrillar myopathy (PMID: 25728519). ClinVar contains an entry for this variant (Variation ID: 940792). 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.
Revvity Omics, Revvity RCV003145385 SCV003829759 uncertain significance not provided 2020-05-08 criteria provided, single submitter clinical testing

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