ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.242del (p.Gln81fs)

dbSNP: rs1554849133
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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 RCV000639870 SCV000761453 pathogenic Myofibrillar myopathy 4 2024-04-17 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.242del in the primary transcript. This sequence change creates a premature translational stop signal (p.Gln81Argfs*22) in the LDB3 gene. It is expected to result in an absent or disrupted protein product in both transcripts. However, loss-of-function variants in LDB3 are only known to be pathogenic in the alternate transcript (PMID: 36253531). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. ClinVar contains an entry for this variant (Variation ID: 532929). For these reasons, this variant has been classified as Pathogenic.

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