ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2507G>A (p.Arg836His)

gnomAD frequency: 0.00034  dbSNP: rs200670445
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Total submissions: 3
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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 RCV000155258 SCV000204944 uncertain significance not specified 2014-10-27 criteria provided, single submitter clinical testing The p.Arg836His variant in OTOF has not been previously reported in individuals with hearing loss, but has been identified in 0.01% (1/8583) of European America n chromosomes and 0.02% (1/4367) of African American chromosomes by the NHLBI Ex ome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs200670445). A lthough this variant has been seen in the general population, its frequency is n ot high enough to rule out a pathogenic role. The Arginine (Arg) at position 836 is highly conserved in mammals and evolutionary distant species, raising the po ssibility that a change at this position may not be tolerated. However, addition al computational prediction tools do not provide strong support for or against a n impact to the protein. In summary, the clinical significance of the p.Arg836Hi s variant is uncertain.
GeneDx RCV003225034 SCV003921756 uncertain significance not provided 2023-04-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV003225034 SCV004323448 benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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