ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1773del (p.Glu592fs)

dbSNP: rs776530913
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000824632 SCV000965537 pathogenic Myofibrillar myopathy 4 2023-05-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This variant is present in population databases (rs776530913, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Glu592Serfs*30) in the LDB3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LDB3 are known to be pathogenic (PMID: 36253531). The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to NM_001080116.1:c.*18686del in the primary transcript.

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