ClinVar Miner

Submissions for variant NM_000503.6(EYA1):c.1195dup (p.Leu399fs)

dbSNP: rs1585820240
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, Mass General Brigham Personalized Medicine RCV000825582 SCV000966922 likely pathogenic Rare genetic deafness 2018-11-14 criteria provided, single submitter clinical testing The p.Leu399ProfsX5 variant in EYA1 has not been previously reported in individu als with hearing loss or branchio-oto-renal spectrum disorder and was absent fro m large population studies. This variant is predicted to cause a frameshift, whi ch alters the protein?s amino acid sequence beginning at position 399 and leads to a premature termination codon 5 amino acids downstream. This alteration is th en predicted to lead to a truncated or absent protein. Loss of function of the E YA1 gene is an established disease mechanism in autosomal dominant branchio-oto- renal syndrome. In summary, although additional studies are required to fully es tablish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal dominant branchio-oto-renal syndrome. ACMG/AM P Criteria applied: PVS1, PM2.

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.