ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.1199G>A (p.Trp400Ter)

dbSNP: rs62645916
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
Labcorp Genetics (formerly Invitae), Labcorp RCV003672639 SCV004390031 pathogenic not provided 2023-04-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp400*) 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 (no rsID available, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with albinism (PMID: 32552135). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV004574191 SCV005055651 likely pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2024-01-17 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.