Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000150928 | SCV000198572 | uncertain significance | not specified | 2015-04-08 | criteria provided, single submitter | clinical testing | The p.Val596Ile variant in LDB3 has been identified by our laboratory in 1 Hispa nic infant with CHD and coarctation of the aorta. It has also been identified in 3/66734 European chromosomes by the Exome Aggregation Consortium (ExAC, http:// exac.broadinstitute.org). Computational prediction tools and conservation analys is suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical signi ficance of the p.Val596Ile variant is uncertain. |
| Invitae | RCV002514905 | SCV003451278 | uncertain significance | Myofibrillar myopathy 4 | 2024-01-25 | criteria provided, single submitter | clinical testing | The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to NM_001080116.1:c.*18699G>A in the primary transcript. This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 596 of the LDB3 protein (p.Val596Ile). This variant is present in population databases (rs727503130, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |