Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041472 | SCV000065167 | uncertain significance | not specified | 2017-03-31 | criteria provided, single submitter | clinical testing | The p.Ile637Thr variant in OTOF has been previously identified by our laboratory in 4 individuals hearing loss, 3 of whom also have the p.Asp1406Asn variant of uncertain significance, suggesting that these two variants may occur in cis (on the same allele). One of those individuals was reported to have auditory neuropa thy/dys-synchrony and carried additional OTOF variants that were likely causativ e for the hearing loss. This variant has been identified in 0.2% (24/10294) of A frican chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadi nstitute.org; dbSNP rs111033351). Computational prediction tools and conservatio n analysis suggest that this variant may impact the protein, though this informa tion is not predictive enough to determine pathogenicity. In summary, the clinic al significance of the p.Ile637Thr variant is uncertain. |
Fulgent Genetics, |
RCV000765661 | SCV000896995 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 9 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001762126 | SCV002001043 | uncertain significance | not provided | 2022-05-03 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV001762126 | SCV002399538 | likely benign | not provided | 2024-01-15 | criteria provided, single submitter | clinical testing |