Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001062534 | SCV001227341 | uncertain significance | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 2022-11-03 | 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 856956). This variant has not been reported in the literature in individuals affected with SYNE2-related conditions. This variant is present in population databases (rs766721405, gnomAD 0.02%). This sequence change replaces glutamic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 4605 of the SYNE2 protein (p.Glu4605Ala). |