Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000548457 | SCV000649043 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2022-07-11 | 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 470999). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs369433602, gnomAD 0.003%). This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 4788 of the SYNE1 protein (p.Gln4788His). |
Ce |
RCV001531651 | SCV001746881 | uncertain significance | not provided | 2021-05-01 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV001531651 | SCV001880810 | uncertain significance | not provided | 2022-09-06 | criteria provided, single submitter | clinical testing |