Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001551898 | SCV001772498 | uncertain significance | not provided | 2019-10-14 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek 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 | RCV002370194 | SCV002688510 | uncertain significance | Cardiovascular phenotype | 2022-01-05 | criteria provided, single submitter | clinical testing | The p.I302T variant (also known as c.905T>C), located in coding exon 7 of the LDB3 gene, results from a T to C substitution at nucleotide position 905. The isoleucine at codon 302 is replaced by threonine, 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. |
Invitae | RCV002568983 | SCV003458820 | uncertain significance | Myofibrillar myopathy 4 | 2023-04-11 | criteria provided, single submitter | clinical testing | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This variant is present in population databases (rs777489502, gnomAD 0.01%). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 302 of the LDB3 protein (p.Ile302Thr). The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to NM_001080116.1:c.*7165T>C in the primary transcript. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003331184 | SCV004038177 | uncertain significance | not specified | 2023-08-19 | criteria provided, single submitter | clinical testing |