ClinVar Miner

Submissions for variant NM_004086.3(COCH):c.1625G>T (p.Cys542Phe) (rs121908932)

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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000214849 SCV000271349 pathogenic Rare genetic deafness 2015-11-24 criteria provided, single submitter clinical testing The p.Cys542Phe variant in COCH has been reported in one family with post-lingua l progressive sensorineural hearing loss, in which the variant segregated with h earing loss in 15 affected relatives in an autosomal dominant pattern (Street 20 05). In addition, this variant was absent from large population studies and two other variants (p.Cys542Arg, p.Cys542Tyr) affecting the same position have also been reported in families with dominant hearing loss (Yuan 2008, Tsukada 2015) i ndicating that this position is intolerant to variation. In summary, this varian t meets our criteria to be classified as pathogenic for hearing loss in an autos omal dominant manner based on segregation data and absence in controls.
GeneDx RCV001547940 SCV001767763 likely pathogenic not provided 2020-03-18 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 16261627, 29907799)
OMIM RCV000006993 SCV000027189 pathogenic Deafness, autosomal dominant 9 2005-12-01 no assertion criteria provided literature only
Division of Human Genetics,Children's Hospital of Philadelphia RCV000006993 SCV000536925 likely pathogenic Deafness, autosomal dominant 9 2016-02-29 no assertion criteria provided research

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.