Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000518223 | SCV000615607 | uncertain significance | not specified | 2016-12-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000525937 | SCV000649107 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2023-06-10 | 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: 448572). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs777618601, gnomAD 0.0009%). This sequence change replaces asparagine, which is neutral and polar, with histidine, which is basic and polar, at codon 7020 of the SYNE1 protein (p.Asn7020His). |
Revvity Omics, |
RCV003139719 | SCV003826991 | uncertain significance | not provided | 2019-10-09 | criteria provided, single submitter | clinical testing |