Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001774003 | SCV001994475 | uncertain significance | not provided | 2019-08-20 | criteria provided, single submitter | clinical testing | 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 a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV002034481 | SCV002305337 | uncertain significance | Myofibrillar myopathy 4 | 2022-12-23 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1308092). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This variant is present in population databases (rs773170985, gnomAD 0.006%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 5 of the LDB3 protein (p.Val5Met). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |
Fulgent Genetics, |
RCV002506770 | SCV002815892 | uncertain significance | Dilated cardiomyopathy 1C; Myofibrillar myopathy 4 | 2021-07-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003298969 | SCV003999256 | uncertain significance | Cardiovascular phenotype | 2023-03-18 | criteria provided, single submitter | clinical testing | The p.V5M variant (also known as c.13G>A), located in coding exon 1 of the LDB3 gene, results from a G to A substitution at nucleotide position 13. The valine at codon 5 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |