Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000824545 | SCV000965446 | uncertain significance | Myofibrillar myopathy 4 | 2023-11-01 | 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.*10610G>A in the primary transcript. This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 389 of the LDB3 protein (p.Ala389Thr). This variant is present in population databases (no rsID available, gnomAD 0.02%). 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV001171123 | SCV001333803 | uncertain significance | Cardiomyopathy | 2018-03-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001766759 | SCV001998717 | uncertain significance | not provided | 2020-01-13 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 666120; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function |
Ambry Genetics | RCV002332724 | SCV002632705 | uncertain significance | Cardiovascular phenotype | 2022-11-17 | criteria provided, single submitter | clinical testing | The p.A389T variant (also known as c.1165G>A), located in coding exon 8 of the LDB3 gene, results from a G to A substitution at nucleotide position 1165. The alanine at codon 389 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. 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. |