ClinVar Miner

Submissions for variant NM_005422.4(TECTA):c.6163-2A>T

gnomAD frequency: 0.00001  dbSNP: rs876657661
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000214219 SCV000271270 likely pathogenic Rare genetic deafness 2015-03-04 criteria provided, single submitter clinical testing The c.6163-2A>T variant in TECTA has not been previously reported in individuals with hearing loss and was absent from large population studies. This variant oc curs in the invariant region (+/- 1/2) of the splice consensus sequence and is p redicted to cause altered splicing leading to an abnormal or absent protein. Var iants in TECTA have been associated with both autosomal recessive and autosomal dominant nonsyndromic hearing loss, with recessive variants primarily loss of fu nction and dominant typically missense variants. In summary, although additional studies are required to fully establish its clinical significance, this variant is likely pathogenic for autosomal recessive nonsyndromic hearing loss based on its predicted impact to splicing.
Labcorp Genetics (formerly Invitae), Labcorp RCV002519623 SCV003282663 likely pathogenic not provided 2022-05-15 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 20 of the TECTA gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TECTA are known to be pathogenic (PMID: 11087000, 12746400, 17431902, 24130743). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TECTA-related conditions. ClinVar contains an entry for this variant (Variation ID: 228295). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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.