ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2818C>T (p.Gln940Ter)

dbSNP: rs727504936
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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 RCV000156331 SCV000206049 pathogenic Rare genetic deafness 2014-01-30 criteria provided, single submitter clinical testing The Gln940X variant in OTOF has not been previously reported in individuals with hearing loss or in large population studies. This nonsense variant leads to a p remature termination codon at position 940, which is predicted to lead to a trun cated or absent protein. In summary, this variant meets our criteria to be class ified as pathogenic (http://pcpgm.partners.org/LMM).
Labcorp Genetics (formerly Invitae), Labcorp RCV005055632 SCV005714239 pathogenic not provided 2024-02-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln940*) in the OTOF gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in OTOF are known to be pathogenic (PMID: 18381613, 19250381, 22575033). This variant is present in population databases (rs727504936, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with OTOF-related conditions. ClinVar contains an entry for this variant (Variation ID: 179539). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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