Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000595193 | SCV000705322 | uncertain significance | not provided | 2017-01-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000796969 | SCV000936505 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2021-08-24 | criteria provided, single submitter | clinical testing | This sequence change replaces valine with isoleucine at codon 268 of the SYNE1 protein (p.Val268Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs144069436, ExAC 0.04%). 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: 499695). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; 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, |
RCV000595193 | SCV003824037 | uncertain significance | not provided | 2019-09-27 | criteria provided, single submitter | clinical testing |