ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.470T>C (p.Met157Thr)

dbSNP: rs727504789
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156107 SCV000205820 uncertain significance not specified 2013-09-28 criteria provided, single submitter clinical testing The Met157Thr variant in GJB2 has not been reported in individuals with hearing loss or in large population studies. Computational analyses (biochemical amino a cid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide str ong support for or against an impact to the protein. In summary, additional data is needed to determine the clinical significance of this variant.
Genetic Services Laboratory, University of Chicago RCV000156107 SCV000247475 uncertain significance not specified 2015-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002516147 SCV003573328 uncertain significance Inborn genetic diseases 2021-08-10 criteria provided, single submitter clinical testing The c.470T>C (p.M157T) alteration is located in exon 2 (coding exon 1) of the GJB2 gene. This alteration results from a T to C substitution at nucleotide position 470, causing the methionine (M) at amino acid position 157 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.