ClinVar Miner

Submissions for variant NM_001277269.2(OTOG):c.[421G>A] (rs552304627)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000216800 SCV000272254 uncertain significance not specified 2016-08-04 criteria provided, single submitter clinical testing The p.Val141Met variant in OTOG has been previously reported by our laboratory i n 1 individual with hearing loss, but a variant affecting the remaining copy of OTOG was not identified. This variant has been identified in 4/5062 European Ame rican chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadin; however, this frequency in the general population is not high enou gh to rule out a pathogenic role. Computational prediction tools and conservatio n analyses suggest that the p.Val141Met variant may impact the protein, though t his information is not predictive enough to determine pathogenicity. This varian t is located in the last base of the exon, which is part of the 5? splice region . Splice site computational tools suggest a possible impact to splicing, however , this information is not predictive enough to determine pathogenicity. In summa ry, the clinical significance of the p.Val141Met variant is uncertain.
Otology & Neurotology- Genomics of vestibular disorders (CTS-495),Jose Antonio López Escámez, Centro Pfizer - Universidad de Granada - Junta de Andalucía de Genómica e Investigación Oncológica (GENYO) RCV001254781 SCV001167195 likely pathogenic Meniere disease 2020-01-01 criteria provided, single submitter case-control
Baylor Genetics RCV001333066 SCV001525551 uncertain significance Deafness, autosomal recessive 18b 2019-01-16 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001546177 SCV001765650 likely benign not provided 2020-12-08 criteria provided, single submitter clinical testing

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.