Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000734649 | SCV000615651 | uncertain significance | not provided | 2018-11-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000686656 | SCV000814184 | uncertain significance | Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2019-12-04 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with arginine at codon 8634 of the SYNE1 protein (p.Gly8634Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs201664645, ExAC 0.06%). This variant has not been reported in the literature in individuals with SYNE1-related disease. ClinVar contains an entry for this variant (Variation ID: 448594). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |
EGL Genetic Diagnostics, |
RCV000734649 | SCV000862805 | uncertain significance | not provided | 2018-08-10 | criteria provided, single submitter | clinical testing |