ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.4397C>T (p.Thr1466Met) (rs200980776)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825866 SCV000967351 uncertain significance not specified 2018-12-27 criteria provided, single submitter clinical testing The p.Thr1466Met variant in ALMS1 has not been previously reported in individual s with hearing loss or Alstrom syndrome, but has been identified in 0.058% (14/2 4180) of African chromosomes by gnomAD (http://gnomad.broadinstitute.org). Compu tational prediction tools and conservation analysis suggest that this variant ma y not impact the protein, though this information is not predictive enough to ru le out pathogenicity. In summary, the clinical significance of this variant is u ncertain. ACMG/AMP Criteria applied: PM2_Supporting, BP4.

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.