ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.180+5G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003177781 SCV003864743 uncertain significance Cardiovascular phenotype 2023-03-06 criteria provided, single submitter clinical testing The c.180+5G>A intronic variant results from a G to A substitution 5 nucleotides after coding exon 1 in the BAG3 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003779571 SCV004579959 uncertain significance Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2024-11-06 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the BAG3 gene. It does not directly change the encoded amino acid sequence of the BAG3 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BAG3-related conditions. ClinVar contains an entry for this variant (Variation ID: 2453007). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.

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