ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.886C>T (p.Arg296Ter)

dbSNP: rs1060501316
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000460867 SCV000545683 pathogenic Myofibrillar myopathy 4 2024-11-11 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.745C>T in the primary transcript. This sequence change creates a premature translational stop signal (p.Arg296*) 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: 406804). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002480375 SCV002785648 uncertain significance Dilated cardiomyopathy 1C; Myofibrillar myopathy 4 2021-07-20 criteria provided, single submitter clinical testing

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