ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.2094+10T>C

gnomAD frequency: 0.00001  dbSNP: rs769802374
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000610961 SCV000724045 likely benign not specified 2017-10-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV003611528 SCV004561207 uncertain significance Myofibrillar myopathy 4 2023-03-13 criteria provided, single submitter clinical testing This variant is present in population databases (rs769802374, gnomAD 0.007%). The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to NM_001080116.1:c.*26888T>C in the primary transcript. 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. 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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