ClinVar Miner

Submissions for variant NM_004100.5(EYA4):c.456_459del (p.Ser153fs)

dbSNP: rs1583345314
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 RCV000825583 SCV000966923 likely pathogenic Rare genetic deafness 2018-12-27 criteria provided, single submitter clinical testing The p.Ser153HisfsX44 variant in EYA4 has not been previously reported in individ uals with hearing loss and was absent from large population studies. This varian t is predicted to cause a frameshift, which alters the protein?s amino acid sequ ence beginning at position 153 and leads to a premature termination codon 44 ami no acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Heterozygous loss of function of the EYA4 gene is an establishe d disease mechanism in autosomal dominant hearing loss. In summary, although add itional studies are required to fully establish its clinical significance, the p .Ser153HisfsX44 variant is likely pathogenic for autosomal dominant hearing loss . ACMG/AMP 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.