ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.5710T>A (p.Leu1904Met)

gnomAD frequency: 0.00002  dbSNP: rs372724272
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) RCV000594648 SCV000707099 uncertain significance not provided 2017-03-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000594648 SCV002771398 uncertain significance not provided 2021-10-26 criteria provided, single submitter clinical testing
Invitae RCV002532554 SCV002986642 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-07-15 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1911 of the SYNE1 protein (p.Leu1911Met). This variant is present in population databases (rs372724272, gnomAD 0.005%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 500933). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions.

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.