ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2465G>A (p.Arg822Gln)

gnomAD frequency: 0.00003  dbSNP: rs373681505
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155260 SCV000204946 uncertain significance not specified 2017-08-25 criteria provided, single submitter clinical testing The p.Arg822Gln variant in OTOF has been previously identified by our laboratory in in the heterozygous state in 1 individual with sensorineural hearing loss du e to an alternate etiology. It has been identified in 5/18638 of East Asian chro mosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute .org/; dbSNP rs373681505). Although this variant has been seen in the general po pulation, its frequency is not high enough to rule out a pathogenic role. Comput ational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Arg822Gln variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV002514991 SCV003490597 likely benign not provided 2024-03-18 criteria provided, single submitter clinical testing

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