Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000686357 | SCV000813873 | uncertain significance | Myofibrillar myopathy 4 | 2023-09-24 | 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.*19389A>G in the primary transcript. This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 632 of the LDB3 protein (p.Thr632Ala). This variant is present in population databases (rs770525232, gnomAD 0.007%). 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. |
| Ambry Genetics | RCV002406536 | SCV002719491 | uncertain significance | Cardiovascular phenotype | 2022-09-13 | criteria provided, single submitter | clinical testing | The p.T632A variant (also known as c.1894A>G), located in coding exon 11 of the LDB3 gene, results from an A to G substitution at nucleotide position 1894. The threonine at codon 632 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |