ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1824_1825delinsAA (p.Leu609Met)

dbSNP: rs2132485761
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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 RCV001952564 SCV002199822 uncertain significance Myofibrillar myopathy 4 2020-12-16 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This sequence change replaces leucine with methionine at codon 609 of the LDB3 protein (p.Leu609Met). The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to NM_001080116.1:c.*18737_*18738delinsAA in the primary transcript. The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database. This variant has not been reported in the literature in individuals 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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