Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000734649 | SCV000615651 | uncertain significance | not provided | 2021-05-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000686656 | SCV000814184 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2022-09-07 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 8634 of the SYNE1 protein (p.Gly8634Arg). This variant is present in population databases (rs201664645, gnomAD 0.1%). 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: 448594). 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: "Deleterious"; PolyPhen-2: "Probably 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. |
Eurofins Ntd Llc |
RCV000734649 | SCV000862805 | uncertain significance | not provided | 2018-08-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000734649 | SCV001794449 | uncertain significance | not provided | 2021-01-22 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Revvity Omics, |
RCV000734649 | SCV003826486 | uncertain significance | not provided | 2020-10-19 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000734649 | SCV004160496 | uncertain significance | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | SYNE1: PM2 |