ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.859+3G>A

dbSNP: rs376313045
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156258 SCV000205974 uncertain significance not specified 2013-12-05 criteria provided, single submitter clinical testing The 859+3G>A variant in LDB3 has not been previously reported in individuals wit h cardiomyopathy and was absent from large population studies. This variant is l ocated in the 5' splice region. Computational tools do not suggest a negative im pact to splicing, though this information is not predictive enough to rule out p athogenicity. Additional information is needed to fully assess the clinical sign ificance of this variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV005089760 SCV005812689 uncertain significance Myofibrillar myopathy 4 2024-04-24 criteria provided, single submitter clinical testing The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to NM_001080116.1:c.718+3G>A in the primary transcript. This sequence change falls in intron 6 of the LDB3 gene. It does not directly change the encoded amino acid sequence of the LDB3 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 LDB3-related conditions. ClinVar contains an entry for this variant (Variation ID: 179469). 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 is not likely to affect RNA splicing. 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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