ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.690-4618C>A

dbSNP: rs764620834
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000261573 SCV000365584 uncertain significance Myofibrillar Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000319187 SCV000365585 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000371496 SCV000365586 uncertain significance Myofibrillar myopathy 4 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000279363 SCV000365587 uncertain significance Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000371496 SCV004281777 uncertain significance Myofibrillar myopathy 4 2023-10-17 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the LDB3 gene. It does not directly change the encoded amino acid sequence of the LDB3 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs764620834, gnomAD 0.01%). 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: 301334). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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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