ClinVar Miner

Submissions for variant NM_002241.5(KCNJ10):c.1042C>T (p.Arg348Cys) (rs137853074)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000007896 SCV000267374 likely pathogenic Enlarged vestibular aqueduct 2016-03-18 criteria provided, single submitter reference population
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725885 SCV000340249 uncertain significance not provided 2016-03-24 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000358648 SCV000595305 uncertain significance not specified 2016-08-22 criteria provided, single submitter clinical testing
Invitae RCV000687427 SCV000814992 uncertain significance SeSAME syndrome 2018-10-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 348 of the KCNJ10 protein (p.Arg348Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs137853074, ExAC 0.2%). This variant has been reported in combination with other variants in a different gene, SLC26A4, in individuals affected with enlargement of the vestibular aqueduct and Pendred syndrome (PMID: 19426954, 25372295 24860705). ClinVar contains an entry for this variant (Variation ID: 7470). Experimental studies have shown that this missense change results in a protein with altered ion channel properties (PMID: 19426954). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000784954 SCV000923499 uncertain significance KCNJ10-Related Disorders 2019-01-01 criteria provided, single submitter clinical testing
OMIM RCV000007896 SCV000028101 pathogenic Enlarged vestibular aqueduct 2009-05-01 no assertion criteria provided literature only

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.