ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1134T>C (p.Pro378=)

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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 RCV003069673 SCV003471904 uncertain significance Myofibrillar myopathy 4 2022-11-22 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.*10579T>C in the primary transcript. This sequence change affects codon 378 of the LDB3 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the LDB3 protein. This variant is present in population databases (rs767506648, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. 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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