ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.15398C>T (p.Ser5133Leu)

gnomAD frequency: 0.00001  dbSNP: rs771550432
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001201730 SCV001372816 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-11-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs771550432, gnomAD 0.03%). ClinVar contains an entry for this variant (Variation ID: 933501). 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 sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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: "Benign"; Align-GVGD: "Class C15"). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 5062 of the SYNE1 protein (p.Ser5062Leu).

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.