Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000993145 | SCV001145908 | uncertain significance | not provided | 2018-11-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001235253 | SCV001407931 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2021-08-27 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with serine at codon 6100 of the SYNE1 protein (p.Arg6100Ser). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. 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. 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. |
Ce |
RCV000993145 | SCV004160533 | likely benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | SYNE1: BP4 |