ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2867-5_2881del

dbSNP: rs1240121049
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003546708 SCV004260381 likely pathogenic not provided 2024-01-12 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 24 (c.2867-5_2881del) of the OTOF gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in OTOF are known to be pathogenic (PMID: 18381613, 19250381, 22575033). This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has been observed in individual(s) with auditory neuropathy spectrum disorder (PMID: 34424407). ClinVar contains an entry for this variant (Variation ID: 1185081). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
WangQJ Lab, Chinese People's Liberation Army General Hospital RCV001822903 SCV001762432 pathogenic Autosomal recessive nonsyndromic hearing loss 9 2021-07-01 no assertion criteria provided clinical testing

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