ClinVar Miner

Submissions for variant NC_000010.10:g.(?_88469642)_(88469827_?)del

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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 RCV001875212 SCV002140392 uncertain significance Myofibrillar myopathy 4 2021-10-04 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 9 of the LDB3 gene. The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to a deletion within a non-coding region in NM_001080116.1, the primary transcript. This deletion is out-of-frame, and is expected to create a premature translational stop signal and 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. 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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