Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000697140 | SCV000825735 | uncertain significance | Myofibrillar myopathy 4 | 2024-11-06 | 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.*10577C>T in the primary transcript. This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 378 of the LDB3 protein (p.Pro378Ser). This variant is present in population databases (rs373546361, 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. |
| Ambry Genetics | RCV002442482 | SCV002612365 | uncertain significance | Cardiovascular phenotype | 2022-10-20 | criteria provided, single submitter | clinical testing | The p.P378S variant (also known as c.1132C>T), located in coding exon 8 of the LDB3 gene, results from a C to T substitution at nucleotide position 1132. The proline at codon 378 is replaced by serine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. 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. |
| Gene |
RCV004777839 | SCV005388526 | uncertain significance | not provided | 2024-04-15 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; In silico analysis supports that this missense variant does not alter protein structure/function; Reported using an alternate transcript of the gene |