Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000727057 | SCV000617158 | uncertain significance | not provided | 2017-08-16 | criteria provided, single submitter | clinical testing | The E1794G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The E1794G variant is observed in 10/66,582 (0.02%) alleles from individuals of European background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. |
EGL Genetic Diagnostics, |
RCV000727057 | SCV000705250 | uncertain significance | not provided | 2018-01-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000694236 | SCV000822671 | uncertain significance | Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2018-06-22 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid with glycine at codon 1794 of the SYNE1 protein (p.Glu1794Gly). 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 (rs201366911, 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: 449258). 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 C15"). 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. |
Athena Diagnostics Inc | RCV000727057 | SCV001145979 | uncertain significance | not provided | 2019-07-19 | criteria provided, single submitter | clinical testing |