ClinVar Miner

Submissions for variant NM_001378609.3(OTOGL):c.4741C>T (p.Gln1581Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003990154 SCV004806505 uncertain significance Autosomal recessive nonsyndromic hearing loss 84B 2024-03-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV004018016 SCV004848680 likely pathogenic Rare genetic deafness 2022-06-30 criteria provided, single submitter clinical testing The p.Gln1572X variant in OTOGL has not been reported in individuals with nonsyndromic hearing loss and was absent from large population studies. This nonsense variant leads to a premature termination codon at position 1572, which is predicted to lead to a truncated or absent protein. Loss of function of the OTOGL gene is an established disease mechanism in autosomal recessive nonsyndromic hearing loss. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal recessive nonsyndromic hearing loss. ACMG/AMP Criteria applied: PVS1, PM2_P.

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