ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.3863C>T (p.Ala1288Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Prof. Karen Avraham, Tel Aviv University RCV004821422 SCV005442619 uncertain significance Autosomal recessive nonsyndromic hearing loss 9 2024-12-26 criteria provided, single submitter research The OTOF c.3863C>T:p.(Ala1288Val) heterozygous variant is possibly deleterious and not found in gnomAD. It was detected in an individual with moderate-profound HL with another OTOF variant, c.2374C>T:p.(Arg792Trp), known to be pathogenic.

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