Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001945881 | SCV002203853 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2E | 2022-07-15 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 46 of the SGCB protein (p.Pro46Leu). This variant is present in population databases (rs148525453, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SGCB-related conditions. ClinVar contains an entry for this variant (Variation ID: 1427284). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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. |
Revvity Omics, |
RCV001945881 | SCV003827599 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2E | 2023-10-02 | criteria provided, single submitter | clinical testing |