ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.16568A>G (p.Asn5523Ser)

gnomAD frequency: 0.00005  dbSNP: rs773901491
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000369282 SCV000338812 uncertain significance not provided 2017-06-06 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000369282 SCV001880823 uncertain significance not provided 2021-02-09 criteria provided, single submitter clinical testing
Invitae RCV001859628 SCV002223961 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2021-08-17 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 5452 of the SYNE1 protein (p.Asn5452Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs773901491, ExAC 0.06%). This variant has not been reported in the literature in individuals with SYNE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 285675). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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.