ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.5926dup (p.Gln1976fs) (rs34547529)

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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 RCV000825539 SCV000966855 likely pathogenic Rare genetic deafness 2018-08-22 criteria provided, single submitter clinical testing The p.Gln1988ProfsX13 in OTOG has not been previously reported in individuals wi th hearing loss. It was absent from large population studies, though the quality of variant calls at this position is uncertain. This variant is predicted to ca use a frameshift, which alters the protein?s amino acid sequence beginning at po sition 1988 and leads to a premature termination codon 13 amino acids downstream . This alteration is then predicted to lead to a truncated or absent protein. Lo ss of function of the OTOG gene is an established disease mechanism in hearing l oss. In summary, although additional studies are required to fully establish its clinical significance, this variant is likely pathogenic. ACMG/AMP Criteria app lied: PVS1, PM2.

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