Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuberg Centre For Genomic Medicine, |
RCV003448783 | SCV004176492 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 9 | 2023-03-01 | criteria provided, single submitter | clinical testing | The splie region variant c.5291+5G>A in OTOF gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.5291+5G>A variant is novel (not in any individuals) in 1000 Genomes and has allele frequency of 0.007% in gnomAD exomes database. This variant has not been reported to the ClinVar database. For these reasons, this variant has been classified as Uncertain Significance (VUS). In the absence of another reportable variant in OTOF gene, the molecular diagnosis is not confirmed. |