ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.5020G>T (p.Gly1674Ter) (rs1407028917)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000761765 SCV000891955 likely pathogenic not provided 2018-08-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000826211 SCV000967777 likely pathogenic Rare genetic deafness 2018-04-11 criteria provided, single submitter clinical testing The p.Gly1674X variant in OTOG has now been identified in one individual with mi ld hearing loss who had a second nonsense variant in OTOG (LMM data). It has als o been identified in 0.02% (13/67142) of European chromosomes by the Genome Aggr egation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs1407028917). This nonsense variant leads to a premature termination codon at position 1647, which is predicted to lead to a truncated or absent protein. In summary, althoug h additional studies are required to fully establish its clinical significance, the p.Gly1674X variant is likely pathogenic. ACMG/AMP Criteria applied: PVS1, PM 2, PM3.

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