ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.16550A>G (p.Glu5517Gly)

gnomAD frequency: 0.00001  dbSNP: rs765353232
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197796 SCV001368575 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2020-04-02 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3,BP1.
Labcorp Genetics (formerly Invitae), Labcorp RCV001197796 SCV002153111 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2022-10-13 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. 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"). ClinVar contains an entry for this variant (Variation ID: 931335). This variant has not been reported in the literature in individuals affected with SYNE2-related conditions. This variant is present in population databases (rs765353232, gnomAD 0.003%). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 5517 of the SYNE2 protein (p.Glu5517Gly).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.