Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000726171 | SCV000342614 | uncertain significance | not provided | 2016-06-06 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000377851 | SCV000597345 | uncertain significance | not specified | 2017-05-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000647636 | SCV000769434 | uncertain significance | Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2019-09-13 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with tryptophan at codon 451 of the SYNE1 protein (p.Arg451Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs75153800, ExAC 0.02%). This variant has not been reported in the literature in individuals with SYNE1-related disease. ClinVar contains an entry for this variant (Variation ID: 288498). 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. |