ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.1966del (p.Arg656fs)

dbSNP: rs397515590
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001567569 SCV001791282 pathogenic not provided 2024-01-10 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26188103, 22906306, 31589614, 37561809, 19636622)
Labcorp Genetics (formerly Invitae), Labcorp RCV001567569 SCV004292095 pathogenic not provided 2024-09-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg656Glyfs*10) 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 (rs397515590, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with deafness (PMID: 19636622). ClinVar contains an entry for this variant (Variation ID: 65786). 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.
GeneReviews RCV000056025 SCV000087085 not provided Autosomal recessive nonsyndromic hearing loss 9 no assertion provided literature only

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