Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000713625 | SCV000343323 | uncertain significance | not provided | 2016-06-27 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000713625 | SCV000844251 | uncertain significance | not provided | 2021-06-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001859694 | SCV002276324 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2022-07-19 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 6746 of the SYNE1 protein (p.Arg6746Trp). This variant is present in population databases (rs140903556, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of autosomal recessive cerebellar ataxia (PMID: 31692161). ClinVar contains an entry for this variant (Variation ID: 289049). 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. |
Mayo Clinic Laboratories, |
RCV000713625 | SCV002542245 | uncertain significance | not provided | 2021-07-26 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000713625 | SCV003826361 | uncertain significance | not provided | 2023-02-28 | criteria provided, single submitter | clinical testing |