Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003306254 | SCV003995626 | uncertain significance | Cardiovascular phenotype | 2023-05-27 | criteria provided, single submitter | clinical testing | The p.L647V variant (also known as c.1939C>G), located in coding exon 11 of the LDB3 gene, results from a C to G substitution at nucleotide position 1939. The leucine at codon 647 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV003777166 | SCV004636188 | uncertain significance | Myofibrillar myopathy 4 | 2024-01-05 | 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.*19434C>G in the primary transcript. This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 647 of the LDB3 protein (p.Leu647Val). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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. |