ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1457dup (p.Ser486fs)

dbSNP: rs1846883652
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001248403 SCV001421887 uncertain significance Myofibrillar myopathy 4 2019-02-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser486Argfs*9) in the LDB3 gene. It is expected to result in an absent or disrupted protein product. The LDB3 gene has multiple clinically relevant transcripts. The p.Ser486Argfs*9 variant occurs in alternate transcript NM_007078.2, which corresponds to c.*17178dup in NM_001080116.1, the primary transcript listed in the Methods. 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in LDB3 cause disease. This variant has not been reported in the literature in individuals with LDB3-related conditions. This variant is not present in population databases (ExAC no frequency).

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