Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003688826 | SCV004434626 | pathogenic | not provided | 2023-02-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr1603*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with OTOF-related conditions (PMID: 19250381, 30303587). This variant is also known as c.2508C>A (p.Tyr836*). ClinVar contains an entry for this variant (Variation ID: 65805). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV000056044 | SCV000087104 | not provided | Autosomal recessive nonsyndromic hearing loss 9 | no assertion provided | literature only | ||
University of Washington Center for Mendelian Genomics, |
RCV001291118 | SCV001479484 | likely pathogenic | Hearing loss, autosomal recessive | no assertion criteria provided | research |