Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000221765 | SCV000271520 | uncertain significance | not specified | 2015-01-26 | criteria provided, single submitter | clinical testing | The p.Asn67Ser variant in BAG3 has not been previously reported in individuals w ith cardiomyopathy but has been identified in 2/67682 European chromosomes and 2 /10572 African chromosomes by the Exome Aggregation Consortium (ExAC, http://exa c.broadinstitute.org; dbSNP rs572036022). Computational prediction tools and con servation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.ASn67Ser variant is unc ertain. |
Invitae | RCV000547161 | SCV000650663 | likely benign | Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH | 2023-03-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002415900 | SCV002720481 | uncertain significance | Cardiovascular phenotype | 2022-05-24 | criteria provided, single submitter | clinical testing | The p.N67S variant (also known as c.200A>G), located in coding exon 2 of the BAG3 gene, results from an A to G substitution at nucleotide position 200. The asparagine at codon 67 is replaced by serine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |