Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000592089 | SCV000701793 | uncertain significance | not provided | 2016-11-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000592089 | SCV001987613 | uncertain significance | not provided | 2019-08-01 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV001854002 | SCV002302918 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2021-09-18 | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 497337). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with proline at codon 5505 of the SYNE1 protein (p.Ser5505Pro). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and proline. |