ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.2350A>C (p.Thr784Pro)

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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 RCV001195625 SCV001366024 uncertain significance not specified 2020-02-11 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Thr796Pro variant in OTOG has not been previously reported in individuals with hearing loss has been identified in 0.27% (23/8656) of Ashkenazi Jewish chromosomes by gnomAD (http://gnomad.broadinstitute.org). 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.Thr796Pro variant is uncertain but we would lean towards a benign interpretation based on allele frequency. ACMG/AMP Criteria applied: BS1_Supporting.

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