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 2021-03-23 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 a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 31589614, 22906306, 26188103, 19636622)
Invitae RCV001567569 SCV004292095 pathogenic not provided 2023-03-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 65786). This premature translational stop signal has been observed in individual(s) with deafness (PMID: 19636622). This variant is present in population databases (rs397515590, gnomAD 0.003%). 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).
GeneReviews RCV000056025 SCV000087085 not provided Autosomal recessive nonsyndromic hearing loss 9 no assertion provided literature only

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