ClinVar Miner

Submissions for variant NM_005267.5(GJA8):c.1144G>T (p.Glu382Ter)

gnomAD frequency: 0.00003  dbSNP: rs782147633
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 RCV003620251 SCV004533526 uncertain significance Cataract 1 multiple types 2024-05-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu382*) in the GJA8 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 52 amino acid(s) of the GJA8 protein. This variant is present in population databases (rs782147633, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with GJA8-related conditions. This variant disrupts a region of the GJA8 protein in which other variant(s) (p.Arg425*) have been observed in individuals with GJA8-related conditions (PMID: 25148791). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.