ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.3694C>T (p.Arg1232Trp) (rs749458515)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724680 SCV000228740 uncertain significance not provided 2015-03-20 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000176954 SCV000713058 uncertain significance not specified 2017-03-16 criteria provided, single submitter clinical testing The p.Arg1232Trp variant in OTOF has not been previously reported in individuals with hearing loss, but has been reported in ClinVar (Variation ID 196192) as of uncertain significance. This variant has been identified in 3/34394 Latino chro mosomes by the Genome Aggregation Database (gnomAD, http://gnomAD.broadinstitute .org; dbSNP rs749458515). Although this variant has been seen in the general pop ulation, its frequency is not high enough to rule out a pathogenic role. Computa tional prediction tools and conservation analysis suggest that the p.Arg1232Trp variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Arg1 232Trp variant is uncertain.

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