ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.4162_4179del (p.Lys1388_Ala1393del) (rs876657940)

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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 RCV000223042 SCV000272253 uncertain significance not specified 2016-01-03 criteria provided, single submitter clinical testing The p.Lys1400_Ala1405del in OTOG has not been previously reported in individuals with hearing loss and is absent from large population studies, though the abili ty of these studies to accurately detect indels may be limited. This variant is a deletion of 6 amino acids at position 1400 and is not predicted to alter the p rotein reading-frame. It is unclear if this in-frame deletion will impact the no rmal function of the OTOG protein. In summary, the clinical significance of the p.Lys1400_Ala1405del variant is uncertain.

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