ClinVar Miner

Submissions for variant NM_001378609.3(OTOGL):c.6968G>A (p.Arg2323Gln)

gnomAD frequency: 0.00168  dbSNP: rs143495342
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Total submissions: 5
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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 RCV000614311 SCV000711632 likely benign not specified 2016-04-25 criteria provided, single submitter clinical testing p.Arg2314Gln in exon 58 of OTOGL: This variant is not expected to have clinical significance because it has been identified in 0.3% (148/4656) of European chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs14395342).
Labcorp Genetics (formerly Invitae), Labcorp RCV000885709 SCV001029174 likely benign not provided 2025-01-06 criteria provided, single submitter clinical testing
GeneDx RCV000885709 SCV001781800 uncertain significance not provided 2021-05-25 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004955711 SCV005460683 likely benign Inborn genetic diseases 2024-10-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003905570 SCV004719408 likely benign OTOGL-related disorder 2023-08-15 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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