Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000179608 | SCV000231880 | uncertain significance | not provided | 2014-11-17 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000765878 | SCV000897278 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000765878 | SCV001486865 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2022-06-20 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 3325 of the SYNE1 protein (p.Ser3325Asn). This variant is present in population databases (rs746689638, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 198326). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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. |
Revvity Omics, |
RCV000179608 | SCV003826982 | uncertain significance | not provided | 2019-06-03 | criteria provided, single submitter | clinical testing |