Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Human Genetics, |
RCV001730487 | SCV001762965 | pathogenic | Bilateral sensorineural hearing impairment | criteria provided, single submitter | research | This variant was detected in homozygosisi in na sporadic case of HL, born from a consanguineous marriage, segregation confirmed | |
Invitae | RCV003556142 | SCV004292097 | pathogenic | not provided | 2023-12-14 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg518Thrfs*15) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with auditory neuropathy (PMID: 19461658). ClinVar contains an entry for this variant (Variation ID: 65777). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV000056016 | SCV000087076 | pathologic | Autosomal recessive nonsyndromic hearing loss 9 | 2011-04-26 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |