ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.4186G>A (p.Glu1396Lys)

gnomAD frequency: 0.00003  dbSNP: rs745399096
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Total submissions: 2
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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 RCV000607650 SCV000712154 uncertain significance not specified 2016-05-27 criteria provided, single submitter clinical testing The p.Glu1396Lys variant in OTOF has not been previously reported in individuals with hearing loss, but was identified in 4/8634 of East Asian chromosomes by th e Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs74 5399096). Although this variant has been seen in the general population, its f requency is not high enough to rule out a pathogenic role. Computational predic tion tools and conservation analyses do not provide strong support for or agains t an impact to the protein. In summary, the clinical significance of the p.Glu13 96Lys variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV003767433 SCV004685142 likely benign not provided 2023-08-18 criteria provided, single submitter clinical testing

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