Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000370136 | SCV000339565 | uncertain significance | not provided | 2016-02-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002519216 | SCV003296459 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2023-05-15 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs151300068, gnomAD 0.05%). 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: 286224). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 2920 of the SYNE1 protein (p.Ala2920Ser). |
Revvity Omics, |
RCV000370136 | SCV003826435 | uncertain significance | not provided | 2020-06-09 | criteria provided, single submitter | clinical testing |