ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1689G>T (p.Leu563=)

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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 RCV003613435 SCV004455279 uncertain significance Myofibrillar myopathy 4 2023-08-14 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 563 of the LDB3 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the LDB3 protein. The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to NM_001080116.1:c.*18602G>T in the primary transcript.

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