ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.860-22_860-12del

dbSNP: rs727504602
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155849 SCV000205560 uncertain significance not specified 2013-06-14 criteria provided, single submitter clinical testing The 860-22_860-12del variant in LDB3 has not been reported in individuals with c ardiomyopathy. Data from large population studies is insufficient to assess its frequency in the general population. It is located in the 5' splice region. One of 5 computational tools suggests an impact to splicing, though this information is not predictive enough to determine pathogenicity. Additional studies are nee ded to fully assess its clinical significance.
Eurofins Ntd Llc (ga) RCV000726215 SCV000342954 uncertain significance not provided 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002515001 SCV002999548 uncertain significance Myofibrillar myopathy 4 2023-06-07 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 179065). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 6 of the LDB3 gene. It does not directly change the encoded amino acid sequence of the LDB3 protein.

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