ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.1220A>C (p.Gln407Pro) (rs876657936)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000221656 SCV000272244 uncertain significance not specified 2016-01-21 criteria provided, single submitter clinical testing The p.Gln407Pro variant in OTOG has not been previously reported in individuals with hearing loss. Data from large population studies are insufficient to assess the frequency of this variant. Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Gln407Pro variant is uncertain.
Fulgent Genetics,Fulgent Genetics RCV000763722 SCV000894606 uncertain significance Deafness, autosomal recessive 18b 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001658019 SCV001875362 uncertain significance not provided 2021-09-08 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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