Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000517444 | SCV000615646 | uncertain significance | not specified | 2016-09-14 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000727530 | SCV000709501 | uncertain significance | not provided | 2017-06-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000796046 | SCV000935537 | uncertain significance | Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2018-08-03 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with histidine at codon 8475 of the SYNE1 protein (p.Arg8475His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs759577495, ExAC 0.006%). This variant has not been reported in the literature in individuals with SYNE1-related disease. ClinVar contains an entry for this variant (Variation ID: 448591). 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: "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. |