ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2359C>T (p.Arg787Cys)

gnomAD frequency: 0.00006  dbSNP: rs574277214
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000598111 SCV000704990 uncertain significance not provided 2017-01-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001195583 SCV001365978 likely benign not specified 2020-04-06 criteria provided, single submitter clinical testing The p.Arg787Cys variant in OTOF is classified as likely benign due to a lack of conservation across species. 3 mammals (squirrel, dolphin, killer whale) carry a cysteine (Cys) at this position despite high nearby amino acid conservation. ACMG/AMP Criteria applied: BP4_Strong.
Labcorp Genetics (formerly Invitae), Labcorp RCV000598111 SCV004267091 likely benign not provided 2024-02-16 criteria provided, single submitter clinical testing
GeneDx RCV000598111 SCV005437675 uncertain significance not provided 2024-12-16 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

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