Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000647643 | SCV000769441 | uncertain significance | Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2019-12-18 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid with lysine at codon 6202 of the SYNE1 protein (p.Glu6202Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs201346604, ExAC 0.03%). This variant has not been reported in the literature in individuals with SYNE1-related disease. 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: "Benign"; Align-GVGD: "Class C55"). 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, |
RCV000733181 | SCV000861212 | uncertain significance | not provided | 2018-05-16 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000733181 | SCV001145912 | uncertain significance | not provided | 2019-03-21 | criteria provided, single submitter | clinical testing |