Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000180773 | SCV000233261 | uncertain significance | not provided | 2014-09-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001237930 | SCV001410721 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2023-07-07 | 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. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 199251). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs200360218, gnomAD 0.006%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 6172 of the SYNE1 protein (p.Glu6172Lys). |
Mayo Clinic Laboratories, |
RCV000180773 | SCV004223958 | uncertain significance | not provided | 2022-03-17 | criteria provided, single submitter | clinical testing |