ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.2T>C (p.Met1Thr)

dbSNP: rs1602348519
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001388320 SCV001589254 pathogenic Charcot-Marie-Tooth Neuropathy X 2020-11-06 criteria provided, single submitter clinical testing Disruption of the initiator codon has been reported to affect GJB1 protein function (PMID: 25771809). For these reasons, this variant has been classified as Pathogenic. Disruption of the initiator codon has been observed in individual(s) with GJB1-related conditions (PMID: 24958582, 20039784, 25771809, Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (ExAC no frequency). This sequence change affects the initiator methionine of the GJB1 mRNA. The next in-frame methionine is located at codon 34.

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.