ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.61C>G (p.Pro21Ala)

dbSNP: rs757447631
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001195276 SCV001365585 uncertain significance not specified 2019-07-26 criteria provided, single submitter clinical testing The p.Pro21Ala variant in WFS1 has not been previously reported in individuals with hearing loss, Wolfram syndrome, or Wolfram-like syndrme, but has been identified in 0.002% (2/84222) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2, BP4.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002509123 SCV002769798 uncertain significance Wolfram syndrome 1 criteria provided, single submitter research Potent mutations in WFS1 gene are associated with Wolfram's syndrome, an autosomal recessive condition, which cause diabetes mellitus, diabetes insipidus, deafness and optic atrophy. However no sufficient evidence is found to ascertain the role of this particular variant rs757447631 in Wolfram's syndrome yet.

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.