ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.658C>T (p.Gln220Ter)

gnomAD frequency: 0.00002  dbSNP: rs797046083
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192311 SCV000249340 pathogenic Oculocutaneous albinism type 1A 2015-07-27 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000732318 SCV000860253 pathogenic not provided 2018-03-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000192311 SCV001821937 pathogenic Oculocutaneous albinism type 1A 2021-07-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000732318 SCV002234128 pathogenic not provided 2023-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln220*) in the TYR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TYR are known to be pathogenic (PMID: 23504663). This variant is present in population databases (rs797046083, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with TYR-related conditions. ClinVar contains an entry for this variant (Variation ID: 212523). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV004567398 SCV005055658 likely pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2023-11-27 criteria provided, single submitter 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.