Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mayo Clinic Laboratories, |
RCV000660383 | SCV000782459 | uncertain significance | Autosomal recessive ataxia, Beauce type | 2016-06-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001861718 | SCV002292515 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2022-07-19 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 3413 of the SYNE1 protein (p.Asp3413Ala). This variant is present in population databases (rs546645393, gnomAD 0.03%). 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: 547854). 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 C65"). 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. |
Athena Diagnostics Inc | RCV002473100 | SCV002771443 | uncertain significance | not provided | 2022-06-30 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV002473100 | SCV003824598 | uncertain significance | not provided | 2020-07-10 | criteria provided, single submitter | clinical testing |