ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1858-11C>A

gnomAD frequency: 0.00007  dbSNP: rs369454227
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000422832 SCV000524026 uncertain significance not provided 2017-01-16 criteria provided, single submitter clinical testing The c.1858-11 C>A variant of uncertain significance in the LDB3 gene has not been published as a pathogenic variant or been reported as a benign variant to our knowledge. This variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, and was not observed in the Exome Aggregation Consortium, indicating it is not a common benign variant in these populations. The c.1858-11 C>A variant is predicted to impact the natural splice acceptor site in intron 10; however, in the absence of functional mRNA studies, the physiological consequence of this variant on splicing cannot be precisely determined. Furthermore, no other splice site variants in the LDB3 gene have been reported in the Human Gene Mutation Database in association with cardiomyopathy (Stenson et al., 2014).
Fulgent Genetics, Fulgent Genetics RCV002502532 SCV002812812 uncertain significance Dilated cardiomyopathy 1C; Myofibrillar myopathy 4 2021-08-23 criteria provided, single submitter clinical testing

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