Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001212978 | SCV001384591 | uncertain significance | Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH | 2019-08-22 | 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 variant has not been reported in the literature in individuals with BAG3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with lysine at codon 441 of the BAG3 protein (p.Asn441Lys). The asparagine residue is weakly conserved and there is a moderate physicochemical difference between asparagine and lysine. |