ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.302_304AGA[2] (p.Lys103del) (rs1555341934)

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
Integrated Genetics/Laboratory Corporation of America RCV000587675 SCV000698243 uncertain significance not provided 2017-06-06 criteria provided, single submitter clinical testing Variant summary: The GJB2 c.308_310delAGA (p.Lys103del) variant involves the deletion of 3 nucleotides, leading to an in-frame deletion of a lysine residue in the connexin, N-terminal domain (InterPro). One in silico tool predicts a damaging outcome for this variant. This variant is absent from the large control database ExAC (0/121232 control chromosomes). To our knowledge, the variant of interest has not been reported in affected individuals via publications, nor has it been evaluated for functional impact by in vivo/vitro studies. Due to the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.

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.