ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.568T>A (p.Phe190Ile)

dbSNP: rs371173786
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 RCV000825315 SCV000966610 uncertain significance not specified 2018-03-02 criteria provided, single submitter clinical testing The p.Phe190Ile variant in COL4A3 has not been previously reported in individual s with Alport syndrome, but has been identified in 3/33550 Latino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSN P rs371173786). Although this variant has been seen in the general population, i ts frequency is not high enough to rule out a pathogenic role. Computational pre diction tools and conservation analyses do not provide strong support for or aga inst an impact to the protein. In summary, the clinical significance of the p.Ph e190Ile variant is uncertain. ACMG/AMP Criteria applied: PM2.
Natera, Inc. RCV001825679 SCV002076384 uncertain significance Alport syndrome 2020-09-09 no assertion criteria provided clinical testing

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.