ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.23969G>A (p.Arg7990Lys)

gnomAD frequency: 0.00001  dbSNP: rs777371816
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516903 SCV000615637 uncertain significance not specified 2017-06-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000998700 SCV001154911 uncertain significance not provided 2016-07-01 criteria provided, single submitter clinical testing
Invitae RCV001212492 SCV001384076 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-07-10 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. This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 7919 of the SYNE1 protein (p.Arg7919Lys). This variant is present in population databases (rs777371816, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 448587). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive.
Revvity Omics, Revvity RCV000998700 SCV003826353 uncertain significance not provided 2021-03-18 criteria provided, single submitter clinical testing

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.