Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000307231 | SCV000342764 | uncertain significance | not provided | 2016-06-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001222715 | SCV001394830 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2021-10-27 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, a(n) basic and polar amino acid, with tryptophan, a(n) neutral and slightly polar amino acid, at codon 3753 of the SYNE1 protein (p.Arg3753Trp). This variant is present in population databases (rs371013745, gnomAD 0.02%). 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: 288599). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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. |