ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.4809C>A (p.Tyr1603Ter)

dbSNP: rs143939430
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003688826 SCV004434626 pathogenic not provided 2023-02-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr1603*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with OTOF-related conditions (PMID: 19250381, 30303587). This variant is also known as c.2508C>A (p.Tyr836*). ClinVar contains an entry for this variant (Variation ID: 65805). For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000056044 SCV000087104 not provided Autosomal recessive nonsyndromic hearing loss 9 no assertion provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001291118 SCV001479484 likely pathogenic Hearing loss, autosomal recessive no assertion criteria provided research

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