ClinVar Miner

Submissions for variant NM_001304438.2(TMEM132E):c.1529G>A (p.Arg510Gln)

gnomAD frequency: 0.00003  dbSNP: rs139895222
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003965082 SCV004777760 uncertain significance TMEM132E-related condition 2023-11-27 criteria provided, single submitter clinical testing The TMEM132E c.1529G>A variant is predicted to result in the amino acid substitution p.Arg510Gln. This variant was reported in the homozygous state in two siblings with non-syndromic hearing loss and was heterozygous in an unaffected sibling the consanguineous parents (Li. 2015. PubMed ID: 25331638). Functional experiments from the same study found this variant was unable to rescue the knockdown phenotype in zebrafish. This variant is reported in 0.075% of alleles in individuals of East Asian descent in gnomAD. Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
OMIM RCV000786004 SCV000924643 pathogenic Hearing loss, autosomal recessive 99 2020-09-02 no assertion criteria provided literature only

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.