ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.5918C>T (p.Thr1973Met) (rs868729716)

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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 RCV000825421 SCV000966719 uncertain significance not specified 2018-05-21 criteria provided, single submitter clinical testing The p.Thr1985Met variant in OTOG has not been previously reported in individuals with hearing loss. This variant has been identified in 22/23846 of Latino chrom osomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute. org; dbSNP rs868729716). Although this variant has been seen in the general popu lation, its frequency is not high enough to rule out a pathogenic role. Computat ional prediction tools and conservation analysis do not provide strong support f or or against an impact to the protein. In summary, the clinical significance of the p.Thr1985Met variant is uncertain. ACMG/AMP criteria applied: BS1_Supportin g.

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