ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.2094+5G>A

gnomAD frequency: 0.00001  dbSNP: rs1847251877
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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 RCV001975903 SCV002255376 uncertain significance Myofibrillar myopathy 4 2021-05-18 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with LDB3-related conditions. This sequence change falls in intron 13 of the LDB3 gene. It does not directly change the encoded amino acid sequence of the LDB3 protein, but it affects a nucleotide within the consensus splice site of the intron. The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to NM_001080116.1:c.*26883G>A in the primary transcript. It affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing 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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