ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.-4C>T (rs727502894)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000766350 SCV000589950 uncertain significance not provided 2017-03-02 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the BAG3 gene. The c.-4 C>T variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 10/52874 (0.02%) alleles from individuals of European background in the Exome Aggregation Consortium (ExAC) dataset (Lek et al., 2016; Exome Variant Server). The c.-4 C>T variant alters a position in the Kozak sequence, but is not expected to alter the ATG initiation codon. However, in the absence of RNA/functional studies, the actual effect of this sequence change is unknown. Finally, this nucleotide substitution occurs at a position that is not conserved across species.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150171 SCV000197079 uncertain significance not specified 2014-06-27 criteria provided, single submitter clinical testing The -4C>T variant in BAG3 has not been previously reported in individuals with c ardiomyopathy. Data from large population studies is insufficient to assess the frequency of this variant. This variant is located in the 5' UTR and is part of the translation initiation (Kozak) sequence but its effect on translation is unk nown. In summary, the clinical significance of the -4C>T variant is uncertain.

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