Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000593608 | SCV000705994 | uncertain significance | not provided | 2017-01-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001867967 | SCV002303952 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2020-11-10 | criteria provided, single submitter | clinical testing | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SYNE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 500170). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 5367 of the SYNE1 protein (p.Ala5367Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. |