ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.1A>C (p.Met1Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002672175 SCV002997654 uncertain significance Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2024-01-29 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the BAG3 mRNA. The next in-frame methionine is located at codon 9. 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: 1953036). 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.

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