Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000701604 | SCV000830414 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2022-05-30 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs368653411, gnomAD 0.02%). This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 4502 of the SYNE1 protein (p.Lys4502Thr). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. 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: 578558). |
Eurofins Ntd Llc |
RCV000729725 | SCV000857411 | uncertain significance | not provided | 2017-10-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000729725 | SCV002552641 | uncertain significance | not provided | 2022-07-07 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Revvity Omics, |
RCV000729725 | SCV003825215 | uncertain significance | not provided | 2019-08-20 | criteria provided, single submitter | clinical testing |