Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000713604 | SCV000343446 | uncertain significance | not provided | 2016-07-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000701925 | SCV000830749 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2022-10-05 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 4926 of the SYNE1 protein (p.Arg4926Ser). This variant is present in population databases (rs201306174, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 289145). 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 C35"). 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 | RCV000713604 | SCV000844229 | uncertain significance | not provided | 2023-01-27 | criteria provided, single submitter | clinical testing | Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools predict that this variant is not damaging. |
Gene |
RCV000713604 | SCV002525348 | uncertain significance | not provided | 2022-05-27 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |
Revvity Omics, |
RCV000713604 | SCV003824046 | uncertain significance | not provided | 2021-05-19 | criteria provided, single submitter | clinical testing | |
Centre de Biologie Pathologie Génétique, |
RCV001252112 | SCV001427861 | likely benign | Intellectual disability | 2019-01-01 | no assertion criteria provided | clinical testing |