ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2887C>T (p.Arg963Ter) (rs80356595)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760434 SCV000890317 pathogenic not provided 2018-06-26 criteria provided, single submitter clinical testing The R963X variant in the OTOF gene has been reported previously as a homozygous variant in 2 siblings with non-syndromic hearing loss (Hutchin et al., 2005). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R963X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret R963X as a pathogenic variant.
GeneReviews RCV000021052 SCV000041707 pathologic Deafness, autosomal recessive 9 2011-04-26 no assertion criteria provided curation Converted during submission to Pathogenic.

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