Submissions for variant NM_004281.4(BAG3):c.1663_1666dup (p.Ala556fs)

dbSNP: rs1273311196

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001230351	SCV001402826	uncertain significance	Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH	2023-10-09	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Ala556Aspfs*17) in the BAG3 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 20 amino acid(s) of the BAG3 protein. This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 957382). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001580024	SCV001809418	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001580024	SCV001975477	uncertain significance	not provided		no assertion criteria provided	clinical testing