Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000639871 | SCV000761454 | uncertain significance | Myofibrillar myopathy 4 | 2023-07-07 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 273 of the LDB3 protein (p.Gly273Ser). This variant is present in population databases (rs771037817, gnomAD 0.07%). 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: 532930). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. |
Gene |
RCV001766370 | SCV001988624 | uncertain significance | not provided | 2019-07-23 | 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 (ClinVar Variant ID# 532930; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function |
Revvity Omics, |
RCV001766370 | SCV004236236 | uncertain significance | not provided | 2023-05-10 | criteria provided, single submitter | clinical testing |