ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.3332C>T (p.Pro1111Leu)

gnomAD frequency: 0.00038  dbSNP: rs141972928
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155256 SCV000204942 uncertain significance not specified 2014-07-01 criteria provided, single submitter clinical testing The Pro1111Leu variant in OTOF has not been previously reported in individuals w ith hearing loss, but has been identified in 0.14% (6/4406) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/ EVS/; dbSNP rs141972928). Computational prediction tools and conservation analys is suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, additional informa tion is needed to fully assess the clinical significance of this variant.
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital RCV001729416 SCV001792224 pathogenic Autosomal recessive nonsyndromic hearing loss 9 criteria provided, single submitter research in compound heterozygosis with the c.2153G>A variant ina subject with bilateral non-syndromic prelingual auditory neuropathy (sporadic)
Labcorp Genetics (formerly Invitae), Labcorp RCV002514990 SCV003267731 likely benign not provided 2024-12-19 criteria provided, single submitter clinical testing
GeneDx RCV002514990 SCV005331613 uncertain significance not provided 2024-01-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34599368)

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