Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000596014 | SCV000704351 | uncertain significance | not provided | 2016-12-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000793757 | SCV000933127 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2023-06-15 | 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 499048). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs201127061, gnomAD 0.02%). This sequence change replaces glutamine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 2515 of the SYNE1 protein (p.Gln2515Leu). |
Gene |
RCV000596014 | SCV001764967 | uncertain significance | not provided | 2020-04-03 | criteria provided, single submitter | clinical testing | 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 |
Athena Diagnostics Inc | RCV000596014 | SCV001880883 | uncertain significance | not provided | 2021-02-26 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000596014 | SCV003822768 | uncertain significance | not provided | 2023-07-11 | criteria provided, single submitter | clinical testing |