ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.1552_1567del (p.Arg518fs)

dbSNP: rs1443739332
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Human Genetics, Institute of Biosciences - University of Sao Paulo RCV001730487 SCV001762965 pathogenic Bilateral sensorineural hearing impairment criteria provided, single submitter research This variant was detected in homozygosisi in na sporadic case of HL, born from a consanguineous marriage, segregation confirmed
Invitae RCV003556142 SCV004292097 pathogenic not provided 2023-12-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg518Thrfs*15) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with auditory neuropathy (PMID: 19461658). ClinVar contains an entry for this variant (Variation ID: 65777). For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000056016 SCV000087076 pathologic Autosomal recessive nonsyndromic hearing loss 9 2011-04-26 no assertion criteria provided curation Converted during submission to Pathogenic.

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