ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.5800dup (p.Leu1934fs) (rs397515609)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008481 SCV001168252 likely pathogenic not provided 2018-12-28 criteria provided, single submitter clinical testing The c.5800dupC likely pathogenic variant in the OTOF gene has been reported previously in association with hearing loss (Rodriguez-Ballesteros et al., 2008; Mahdieh et al., 2012). The duplication causes a frameshift starting with codon Leucine 1934, changes this amino acid to a Proline residue and creates a premature Stop codon at position 251 of the new reading frame, denoted p.Leu1934ProfsX251. The c.5800dupC variant is not observed in large population cohorts (Lek et al., 2016). This likely pathogenic variant is predicted to result in protein truncation, as the last 64 amino acids are lost and replaced with 250 incorrect amino acids (Stenson et al., 2014). In summary, we interpret this variant as likely pathogenic.
GeneReviews RCV000056052 SCV000087112 pathologic Deafness, autosomal recessive 9 2011-04-26 no assertion criteria provided curation Converted during submission to Pathogenic.

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