ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.4192G>A (p.Asp1398Asn) (rs876657939)

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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 RCV000218842 SCV000272252 uncertain significance not specified 2015-04-22 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The p.Asp1398As n variant in OTOG has not been previously reported in individuals with hearing l oss and data from large population studies is insufficient to assess the frequen cy of this variant. This variant is located in the last base of the exon, which is part of the 5? splice region. Computational tools suggest an impact to splici ng; however, this information is not predictive enough to determine pathogenicit y. In summary, while there is some suspicion for a pathogenic role, the clinica l significance of this variant is uncertain.

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