Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003546708 | SCV004260381 | likely pathogenic | not provided | 2024-01-12 | criteria provided, single submitter | clinical testing | This variant results in the deletion of part of exon 24 (c.2867-5_2881del) of the OTOF gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in OTOF are known to be pathogenic (PMID: 18381613, 19250381, 22575033). This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has been observed in individual(s) with auditory neuropathy spectrum disorder (PMID: 34424407). ClinVar contains an entry for this variant (Variation ID: 1185081). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
Wang |
RCV001822903 | SCV001762432 | pathogenic | Autosomal recessive nonsyndromic hearing loss 9 | 2021-07-01 | no assertion criteria provided | clinical testing |