ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.322-1G>A

dbSNP: rs794729059
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183525 SCV000235988 uncertain significance not provided 2016-08-18 criteria provided, single submitter clinical testing The c.322-1 G>A variant has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. This variant destroys the canonical splice acceptor site in intron 3 and is predicted to cause abnormal gene splicing. However, no mutations associated with haploinsuffiency have been reported in the LDB3 gene in HGMD in association with cardiomyopathy (Stenson P et al., 2009). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV005089923 SCV005798591 uncertain significance Myofibrillar myopathy 4 2024-03-13 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the LDB3 gene. It does not directly change the encoded amino acid sequence of the LDB3 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. ClinVar contains an entry for this variant (Variation ID: 201842). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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