Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001900264 | SCV002142454 | uncertain significance | Myofibrillar myopathy 4 | 2023-03-07 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 137 of the LDB3 protein (p.Pro137Leu). ClinVar contains an entry for this variant (Variation ID: 1373060). 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. |