ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1653C>A (p.Cys551Ter)

dbSNP: rs45581435
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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 RCV001948664 SCV002210366 uncertain significance Myofibrillar myopathy 4 2021-08-26 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with a stop codon at codon 551 of the LDB3 protein (p.Cys551*). The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to NM_001080116.1:c.*17374C>A in the primary transcript. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in LDB3 cause disease.

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