ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.2113A>G (p.Thr705Ala) (rs562612507)

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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 RCV000825419 SCV000966717 uncertain significance not specified 2018-04-18 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Thr717Ala var iant in OTOG has not been previously reported in individuals with hearing loss, but has been identified in 0.15% (23/15226) of African chromosomes by the Genome Aggregation Database (gnomAD,; dbSNP rs5626125 07). Although this variant has been seen in the general population, its frequenc y is not high enough to rule out a pathogenic role. Computational prediction too ls and conservation analyses suggest that this variant may not impact the protei n, though this information is not predictive enough to rule out pathogenicity. I n summary, while the clinical significance of the p.Thr717Ala variant is uncerta in, the frequency and computational data suggest that it is more likely to be be nign. ACMG/AMP Criteria applied: BP4.

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