ClinVar Miner

Submissions for variant NM_000503.6(EYA1):c.229C>T (p.Arg77Ter)

gnomAD frequency: 0.00001  dbSNP: rs200164773
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002231280 SCV000630901 pathogenic Melnick-Fraser syndrome 2024-08-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg77*) in the EYA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EYA1 are known to be pathogenic (PMID: 10464653, 18220287). This variant is present in population databases (no rsID available, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with clinical features of EYA1-related conditions (PMID: 33240318). ClinVar contains an entry for this variant (Variation ID: 459254). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001853703 SCV002107369 likely pathogenic not provided 2024-09-04 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Reported as c.316C>T p.(Arg106Ter), de novo variant with confirmed parentage in a fetus with cleft lip and palate on ultrasound; however additional clinical information was not provided (PMID: 37745857); This variant is associated with the following publications: (PMID: 31589614, 33240318, 37745857)
AiLife Diagnostics, AiLife Diagnostics RCV001853703 SCV002501309 likely pathogenic not provided 2021-06-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483377 SCV002793202 likely pathogenic Branchiootic syndrome 1; Branchiootorenal syndrome 1; Otofaciocervical syndrome 1 2022-02-25 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.