ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1459C>T (p.Arg487Cys)

dbSNP: rs950395877
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001242760 SCV001415868 uncertain significance Myofibrillar myopathy 4 2023-10-23 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.*17180C>T in the primary transcript. This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 487 of the LDB3 protein (p.Arg487Cys). This variant is present in population databases (no rsID available, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Fulgent Genetics, Fulgent Genetics RCV002480815 SCV002775455 uncertain significance Dilated cardiomyopathy 1C; Myofibrillar myopathy 4 2021-08-23 criteria provided, single submitter clinical testing

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