ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.4936G>C (p.Ala1646Pro)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003140740 SCV003820811 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2019-06-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004246074 SCV003958536 uncertain significance not specified 2023-04-06 criteria provided, single submitter clinical testing The c.4936G>C (p.A1646P) alteration is located in exon 34 (coding exon 33) of the SYNE2 gene. This alteration results from a G to C substitution at nucleotide position 4936, causing the alanine (A) at amino acid position 1646 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.