Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002746156 | SCV003010434 | pathogenic | not provided | 2023-09-27 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. 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 (rs751564248, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with auditory neuropathy (PMID: 30368385). ClinVar contains an entry for this variant (Variation ID: 1972386). |
Revvity Omics, |
RCV003485792 | SCV004237393 | pathogenic | Autosomal recessive nonsyndromic hearing loss 9 | 2023-11-02 | criteria provided, single submitter | clinical testing |