ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.1273C>T (p.Arg425Ter)

gnomAD frequency: 0.00001  dbSNP: rs397515582
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002515746 SCV003524154 pathogenic not provided 2023-11-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg425*) 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 (rs397515582, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with auditory neuropathy spectrum disorder and/or deafness (PMID: 19250381, 28335750, 31095577). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 65776). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000056015 SCV000087075 not provided Autosomal recessive nonsyndromic hearing loss 9 no assertion provided literature only

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