Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002019917 | SCV002292064 | uncertain significance | Myofibrillar myopathy 4 | 2022-10-28 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.1%). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 712 of the LDB3 protein (p.Lys712Arg). The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to NM_001080116.1:c.*33553A>G in the primary transcript. 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. |
| Ambry Genetics | RCV004046021 | SCV003586520 | uncertain significance | Cardiovascular phenotype | 2023-11-10 | criteria provided, single submitter | clinical testing | The p.K712R variant (also known as c.2135A>G), located in coding exon 13 of the LDB3 gene, results from an A to G substitution at nucleotide position 2135. The lysine at codon 712 is replaced by arginine, 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. |