ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.818A>C (p.Glu273Ala)

gnomAD frequency: 0.00003  dbSNP: rs546948362
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002075957 SCV002424295 likely benign not provided 2024-10-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV003033334 SCV003738391 uncertain significance Inborn genetic diseases 2021-12-01 criteria provided, single submitter clinical testing The c.818A>C (p.E273A) alteration is located in exon 7 (coding exon 6) of the WFS1 gene. This alteration results from a A to C substitution at nucleotide position 818, causing the glutamic acid (E) at amino acid position 273 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796710 SCV005417079 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome criteria provided, single submitter clinical testing PM2_Supporting

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.