Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001536972 | SCV001753794 | likely benign | not provided | 2020-03-05 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed 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 |
Invitae | RCV001873806 | SCV002219089 | uncertain significance | Myofibrillar myopathy 4 | 2023-06-20 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with LDB3-related conditions. 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. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 1179890). This variant is present in population databases (rs766405051, gnomAD 0.009%). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 4 of the LDB3 protein (p.Ser4Asn). |
Ambry Genetics | RCV004039241 | SCV005025577 | likely benign | Cardiovascular phenotype | 2024-01-09 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |