ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2523G>T (p.Glu841Asp)

dbSNP: rs1553352609
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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, Mass General Brigham Personalized Medicine RCV000606278 SCV000731513 uncertain significance not specified 2017-03-28 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The p.Glu841Asp variant in OTOF has not been previously reported in individuals with hearing lo ss and was absent from large population studies. This variant is located at the last base of the exon, which is part of the 5? splice region. Computational tool s suggest an impact to splicing; however, this information is not predictive eno ugh to determine pathogenicity. In summary, while there is some suspicion for a pathogenic role, the clinical significance of the p.Glu841Asp variant is uncerta in.

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