ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1676G>T (p.Arg559Leu)

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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 RCV003827532 SCV004629358 uncertain significance Myofibrillar myopathy 4 2022-12-20 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.*17397G>T in the primary transcript. This variant has not been reported in the literature in individuals affected with LDB3-related conditions. 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 559 of the LDB3 protein (p.Arg559Leu). This variant also falls at the last nucleotide of exon 10, which is part of the consensus splice site for this exon.

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