Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000726567 | SCV000345583 | uncertain significance | not provided | 2016-08-24 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000726567 | SCV000615674 | uncertain significance | not provided | 2019-02-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002518152 | SCV003009510 | 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 290914). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs367594476, gnomAD 0.004%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 2039 of the SYNE1 protein (p.Glu2039Lys). |
Revvity Omics, |
RCV000726567 | SCV003825353 | uncertain significance | not provided | 2021-10-26 | criteria provided, single submitter | clinical testing |