ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.-23G>T (rs786204734)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169581 SCV000221086 likely pathogenic Deafness, autosomal recessive 1A 2015-01-26 criteria provided, single submitter literature only
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000220459 SCV000271226 likely pathogenic Rare genetic deafness 2015-05-17 criteria provided, single submitter clinical testing The c.-23G>T variant in GJB2 has been previously reported in 2 individuals with hearing loss who were compound heterozygous with another pathogenic variant in G JB2 (Mani 2009; Tilton 2014 [conference abstract]), and was absent in 192 contro l chromosomes (Mani 2009). Data from large population studies is insufficient t o assess the frequency of this variant in the general population. This variant i s located in the last base of the exon, which is part of the 5? splice region, a nd computational tools suggest an impact to splicing. However, additional data i s needed to confirm this. In summary, although additional studies are required t o fully establish its clinical significance, the c.-23G>T variant is likely path ogenic, based on its predicted impact to splicing and its co-occurrence with a p athogenic GJB2 variant, in compound heterozygosity, in two individuals with hear ing loss.
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000678857 SCV000805050 pathogenic Hearing loss 2017-06-02 no assertion criteria provided clinical testing

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.