Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000180202 | SCV000232596 | uncertain significance | not provided | 2015-06-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000700421 | SCV000829175 | uncertain significance | Myofibrillar myopathy 4 | 2023-05-22 | 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 198762). This variant is present in population databases (rs377201153, gnomAD 0.005%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 263 of the LDB3 protein (p.Arg263Cys). |
Gene |
RCV000180202 | SCV001993454 | uncertain significance | not provided | 2019-08-12 | 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 but additional evidence is not available (ClinVar Variant ID# 198762; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function |