ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.614A>C (p.Glu205Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003836464 SCV004635424 uncertain significance Myofibrillar myopathy 4 2023-11-22 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.321+1571A>C in the primary transcript. This sequence change replaces glutamic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 205 of the LDB3 protein (p.Glu205Ala). This variant is present in population databases (rs767919085, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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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