Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000151614 | SCV000199808 | uncertain significance | not specified | 2015-05-05 | criteria provided, single submitter | clinical testing | The c.898-6C>A variant in OTOF has not been previously identified in individuals with hearing loss or auditory neuropathy. It has also been identified in 4/1145 4 of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs199687628). This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing. However, this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the c.898-6C>A variant is uncertain. |
Gene |
RCV001547193 | SCV001766841 | uncertain significance | not provided | 2021-03-22 | criteria provided, single submitter | clinical testing | In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV001547193 | SCV002210347 | uncertain significance | not provided | 2022-08-10 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 9 of the OTOF gene. It does not directly change the encoded amino acid sequence of the OTOF protein. This variant is present in population databases (rs199687628, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with OTOF-related conditions. ClinVar contains an entry for this variant (Variation ID: 164876). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |