Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002519871 | SCV003456464 | uncertain significance | Myofibrillar myopathy 4 | 2022-08-26 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 253222). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This variant is present in population databases (rs775180716, gnomAD 0.0009%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 243 of the LDB3 protein (p.Pro243Leu). |
Wellcome Centre for Mitochondrial Research, |
RCV000239712 | SCV000298023 | pathogenic | Myofibrillar myopathy | 2016-08-16 | no assertion criteria provided | clinical testing |