Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001060522 | SCV001225215 | uncertain significance | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 2023-09-19 | 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. 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. ClinVar contains an entry for this variant (Variation ID: 855286). This variant has not been reported in the literature in individuals affected with SYNE2-related conditions. This variant is present in population databases (rs762452734, gnomAD 0.05%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 2058 of the SYNE2 protein (p.Lys2058Glu). |
Revvity Omics, |
RCV001060522 | SCV003818287 | uncertain significance | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 2019-05-30 | criteria provided, single submitter | clinical testing |