ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.22346+6G>T

gnomAD frequency: 0.00020  dbSNP: rs368678916
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725324 SCV000336053 uncertain significance not provided 2016-08-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000389145 SCV000597335 uncertain significance not specified 2016-04-27 criteria provided, single submitter clinical testing
Invitae RCV000791683 SCV000930943 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-09-19 criteria provided, single submitter clinical testing This sequence change falls in intron 121 of the SYNE1 gene. It does not directly change the encoded amino acid sequence of the SYNE1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs368678916, gnomAD 0.03%). 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: 283751). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000725324 SCV002542244 uncertain significance not provided 2021-04-13 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000725324 SCV002771410 uncertain significance not provided 2023-07-07 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools yielded predictions that this variant is unlikely to have an effect on normal RNA splicing.

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.