ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.1700G>A (p.Arg567Gln)

gnomAD frequency: 0.00054  dbSNP: rs142253169
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001570112 SCV001794331 uncertain significance not provided 2020-11-27 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Observed together withvariant L814Q, and in some cases also with variantV1450=; in individuals with hearing loss tested at GeneDx; and was determined to be on the same allele (in cis) asL814Q in one of these cases
Labcorp Genetics (formerly Invitae), Labcorp RCV001570112 SCV003252123 likely benign not provided 2024-10-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003956261 SCV004773885 likely benign OTOG-related disorder 2022-09-24 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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