Total submissions: 2
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, |
RCV003145385 | SCV003829759 | uncertain significance | not provided | 2020-05-08 | criteria provided, single submitter | clinical testing |