ClinVar Miner

Submissions for variant NM_001368067.1(LDB3):c.847del (p.Ser283fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003611064 SCV004467238 uncertain significance Myofibrillar myopathy 4 2023-05-17 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 results in a frameshift in the LDB3 gene (p.Ser283Alafs*27). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1 amino acid(s) of the LDB3 protein and extend the protein by 25 additional amino acid residues.

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