ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.5506C>T (p.Gln1836Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV001449807 SCV001653099 likely pathogenic Nonsyndromic hearing loss and deafness 2020-05-01 criteria provided, single submitter clinical testing The p.Gln1848X variant in OTOG has not been previously reported in individuals with hearing loss and was absent from large population studies. This nonsense variant leads to a premature termination codon at position 1848, which is predicted to lead to a truncated or absent protein. Loss of function of the OTOG gene is an established disease mechanism in autosomal recessive non-syndromic 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 non-syndromic hearing loss. ACMG/AMP criteria applied: PVS1, PM2.

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