Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001767037 | SCV001990040 | uncertain significance | not provided | 2019-05-20 | 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); Identified in a patient referred for DCM genetic testing at GeneDx, although this proband harbored another cardiogenetic variant that likely contributed to the phenotype; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect |
Invitae | RCV002032843 | SCV002144668 | uncertain significance | Myofibrillar myopathy 4 | 2023-08-04 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 19 of the LDB3 protein (p.Gly19Ala). This variant is present in population databases (rs753314972, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1306084). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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. |