Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001906658 | SCV002171672 | uncertain significance | Myofibrillar myopathy 4 | 2023-12-20 | 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.*18654A>C in the primary transcript. This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 581 of the LDB3 protein (p.Lys581Gln). This variant is present in population databases (rs751506530, gnomAD no frequency). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. 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 | RCV002397884 | SCV002712111 | uncertain significance | Cardiovascular phenotype | 2022-08-01 | criteria provided, single submitter | clinical testing | The p.K581Q variant (also known as c.1741A>C), located in coding exon 10 of the LDB3 gene, results from an A to C substitution at nucleotide position 1741. The lysine at codon 581 is replaced by glutamine, an amino acid with 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. |