Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000271393 | SCV000333492 | uncertain significance | not provided | 2015-07-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001855100 | SCV002217965 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2023-03-12 | 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: 282177). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs371489057, gnomAD 0.0009%). This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 6179 of the SYNE1 protein (p.Ser6179Pro). |
Revvity Omics, |
RCV000271393 | SCV003818167 | uncertain significance | not provided | 2019-05-08 | criteria provided, single submitter | clinical testing |