Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000331100 | SCV000345146 | uncertain significance | not provided | 2016-09-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001069609 | SCV001234788 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2022-09-27 | 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: 290571). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs181649865, gnomAD 0.06%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 5379 of the SYNE1 protein (p.Ala5379Val). |
Athena Diagnostics Inc | RCV000331100 | SCV001880821 | uncertain significance | not provided | 2021-02-16 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000331100 | SCV003824684 | uncertain significance | not provided | 2019-02-14 | criteria provided, single submitter | clinical testing |