ClinVar Miner

Submissions for variant NM_002241.5(KCNJ10):c.193C>T (p.Arg65Cys)

dbSNP: rs387906834
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000023175 SCV001576976 likely pathogenic EAST syndrome 2020-10-28 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Arg65 amino acid residue in KCNJ10. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 19420365). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Experimental studies have shown that this variant affects KCNJ10 protein function (PMID: 21849804). This variant has been observed in individual(s) with KCNJ10-related conditions (PMID: 21849804, 28835827). ClinVar contains an entry for this variant (Variation ID: 30251). This variant is present in population databases (rs387906834, ExAC 0.006%). This sequence change replaces arginine with cysteine at codon 65 of the KCNJ10 protein (p.Arg65Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine.
OMIM RCV000023175 SCV000044466 pathogenic EAST syndrome 2011-01-01 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.