ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter) (rs80356590)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000211836 SCV000065176 pathogenic Rare genetic deafness 2012-03-26 criteria provided, single submitter clinical testing The Arg708X variant in OTOF has been reported in 3 individuals with hearing loss and segregated with disease in six affected family members (Choi 2009, Rodrigue z-Ballesteros 2003). This nonsense variant leads to a premature termination codo n at position 708, which is predicted to lead to a truncated or absent protein. In summary, this variant meets our criteria to be classified as pathogenic (http ://
GeneDx RCV000760435 SCV000890318 pathogenic not provided 2018-08-03 criteria provided, single submitter clinical testing The R708X nonsense variant has been reported previously in association with hearing loss (Rodríguez-Ballesteros et al., 2003; Ammar-Khodja et al., 2015; Pandey et al., 2017). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is observed in 3/23830 (0.0126%) alleles from individuals of African background in large population cohorts (Lek et al., 2016). We consider this variant to be pathogenic.
GeneReviews RCV000021043 SCV000041697 pathologic Deafness, autosomal recessive 9 2011-04-26 no assertion criteria provided curation Converted during submission to Pathogenic.

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