Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000359361 | SCV000334009 | uncertain significance | not provided | 2015-08-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003765595 | SCV004567776 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2023-01-19 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 5749 of the SYNE1 protein (p.Glu5749Gly). ClinVar contains an entry for this variant (Variation ID: 282505). 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. |