ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.4483C>T (p.Arg1495Ter)

dbSNP: rs147321712
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000414855 SCV000492704 pathogenic Hearing impairment 2015-01-13 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002550 SCV001160521 pathogenic not specified 2019-06-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000056043 SCV002811566 pathogenic Autosomal recessive nonsyndromic hearing loss 9 2021-10-14 criteria provided, single submitter clinical testing
Invitae RCV003556146 SCV004292080 pathogenic not provided 2023-10-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1495*) 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 (rs147321712, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with autosomal recessive nonsyndromic deafness (PMID: 18381613, 29293505). ClinVar contains an entry for this variant (Variation ID: 65804). For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000056043 SCV000087103 not provided Autosomal recessive nonsyndromic hearing loss 9 no assertion provided literature only

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