ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.7729+1G>A (rs548496846)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000727025 SCV000680945 uncertain significance not provided 2021-06-02 criteria provided, single submitter clinical testing Observed with no other OTOG variant in a patient with hearing loss in published literature (Baux et al., 2017); Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 27535533, 29196752)
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727025 SCV000705006 uncertain significance not provided 2017-01-25 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000578688 SCV000711746 uncertain significance not specified 2018-03-06 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The c.7729+1G>A variant in OTOG has been reported in the heterozygous state in one individual w ith hearing loss (Baux 2017) and has been identified by our laboratory in the he terozygous state in 2 individuals with hearing loss, both of whom had pathogenic variants in other genes sufficient to explain their hearing loss. This variant has also been identified in 0.2% (101/60880) of European chromosomes by the Geno me Aggregation Database (gnomAD,; dbSNP rs5484 96846). Although this variant has been seen in the general population, its frequ ency is not high enough to rule out a pathogenic role. This variant occurs in th e invariant region (+/- 1,2) of the splice consensus sequence of exon 45; howeve r, exon 45 is in-frame and it is unclear if altered splicing will lead to an in- frame deletion of exon 45 or an absent protein. In summary, while there is some suspicion for a pathogenic role, the clinical significance of the c.7729+1G>A va riant is uncertain. ACMG/AMP Criteria applied: PVS1_Moderate.
Fulgent Genetics,Fulgent Genetics RCV000763724 SCV000894608 uncertain significance Deafness, autosomal recessive 18b 2018-10-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000727025 SCV001245639 uncertain significance not provided 2019-12-01 criteria provided, single submitter clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000727025 SCV001954757 pathogenic not provided no assertion criteria provided 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.