ClinVar Miner

Submissions for variant NM_001378609.3(OTOGL):c.3168G>A (p.Trp1056Ter)

dbSNP: rs2137737853
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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, Mass General Brigham Personalized Medicine RCV001449689 SCV001652941 likely pathogenic Rare genetic deafness 2020-06-16 criteria provided, single submitter clinical testing The p.Trp1047X variant in OTOGL has not been reported in individuals with hearing loss nor in large population studies. This nonsense variant leads to a premature termination codon at position 1047, 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 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 hearing loss. ACMG/AMP Criteria applied: PVS1, PM2.

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