Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001567569 | SCV001791282 | pathogenic | not provided | 2021-03-23 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 31589614, 22906306, 26188103, 19636622) |
Invitae | RCV001567569 | SCV004292095 | pathogenic | not provided | 2023-03-07 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 65786). This premature translational stop signal has been observed in individual(s) with deafness (PMID: 19636622). This variant is present in population databases (rs397515590, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Arg656Glyfs*10) 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). |
Gene |
RCV000056025 | SCV000087085 | not provided | Autosomal recessive nonsyndromic hearing loss 9 | no assertion provided | literature only |