ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.1962del (p.Arg656fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002746156 SCV003010434 pathogenic not provided 2023-09-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Arg656Glyfs*10) in the OTOF gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in OTOF are known to be pathogenic (PMID: 18381613, 19250381, 22575033). This variant is present in population databases (rs751564248, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with auditory neuropathy (PMID: 30368385). ClinVar contains an entry for this variant (Variation ID: 1972386).
Revvity Omics, Revvity RCV003485792 SCV004237393 pathogenic Autosomal recessive nonsyndromic hearing loss 9 2023-11-02 criteria provided, single submitter clinical testing

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