ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.1666C>T (p.Gln556Ter)

gnomAD frequency: 0.00003  dbSNP: rs530874854
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090232 SCV001245637 likely pathogenic not provided 2020-01-01 criteria provided, single submitter clinical testing
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV001289558 SCV001477513 likely pathogenic Autosomal recessive nonsyndromic hearing loss 18B 2020-09-08 criteria provided, single submitter clinical testing
Invitae RCV001090232 SCV003502184 pathogenic not provided 2023-05-05 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 870667). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with OTOG-related conditions. This variant is present in population databases (rs530874854, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Gln568*) in the OTOG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in OTOG are known to be pathogenic (PMID: 23122587).

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