Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000412874 | SCV000491145 | pathogenic | not provided | 2024-05-14 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 25008357, 28436997, 30665703, 21353195, 37461109) |
| Labcorp Genetics |
RCV000460767 | SCV000550836 | pathogenic | Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH | 2022-10-26 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg90*) in the BAG3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BAG3 are known to be pathogenic (PMID: 21353195, 25008357). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with idiopathic dilated cardiomyopathy (PMID: 21353195, 25008357). ClinVar contains an entry for this variant (Variation ID: 372723). For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV002429339 | SCV002742290 | pathogenic | Cardiovascular phenotype | 2021-12-09 | criteria provided, single submitter | clinical testing | The p.R90* pathogenic mutation (also known as c.268C>T), located in coding exon 2 of the BAG3 gene, results from a C to T substitution at nucleotide position 268. This changes the amino acid from an arginine to a stop codon within coding exon 2. This alteration has been reported in two individuals with dilated cardiomyopathy (Norton N et al. Am J Hum Genet, 2011 Mar;88:273-82; Janin A et al. Clin Genet, 2017 Dec;92:616-623). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
| Fulgent Genetics, |
RCV000460767 | SCV002816861 | pathogenic | Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH | 2021-07-30 | criteria provided, single submitter | clinical testing |