ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1599G>C (p.Arg533Ser)

dbSNP: rs1846890284
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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 RCV001248121 SCV001421586 uncertain significance Myofibrillar myopathy 4 2023-12-19 criteria provided, single submitter clinical testing The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.2, and corresponds to c.*17320G>C in the primary transcript. This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 533 of the LDB3 protein (p.Arg533Ser). 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. 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.

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