Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000414855 | SCV000492704 | pathogenic | Hearing impairment | 2015-01-13 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001002550 | SCV001160521 | pathogenic | not specified | 2019-06-10 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000056043 | SCV002811566 | pathogenic | Autosomal recessive nonsyndromic hearing loss 9 | 2021-10-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003556146 | SCV004292080 | pathogenic | not provided | 2023-10-26 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg1495*) 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 (rs147321712, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with autosomal recessive nonsyndromic deafness (PMID: 18381613, 29293505). ClinVar contains an entry for this variant (Variation ID: 65804). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV000056043 | SCV000087103 | not provided | Autosomal recessive nonsyndromic hearing loss 9 | no assertion provided | literature only |