Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000713678 | SCV000337410 | uncertain significance | not provided | 2015-11-06 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000713678 | SCV000844305 | uncertain significance | not provided | 2017-12-30 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000713678 | SCV001154958 | uncertain significance | not provided | 2016-05-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001042732 | SCV001206433 | uncertain significance | Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2019-12-02 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid with glycine at codon 1821 of the SYNE1 protein (p.Glu1821Gly). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and glycine. This variant is present in population databases (rs557081125, ExAC 0.05%). This variant has not been reported in the literature in individuals with SYNE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 284690). 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: "Benign"; Align-GVGD: "Class C65"). 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. |