Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000596577 | SCV000705245 | uncertain significance | not provided | 2017-01-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001295973 | SCV001484926 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2022-03-03 | 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"). ClinVar contains an entry for this variant (Variation ID: 499647). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs746452797, gnomAD 0.002%). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 8486 of the SYNE1 protein (p.Val8486Ala). |
Gene |
RCV000596577 | SCV001996709 | uncertain significance | not provided | 2019-11-12 | 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 that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Athena Diagnostics Inc | RCV000596577 | SCV002771439 | uncertain significance | not provided | 2022-06-10 | criteria provided, single submitter | clinical testing |