Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000214949 | SCV000272248 | benign | not specified | 2017-06-13 | criteria provided, single submitter | clinical testing | p.Pro1240Leu in exon 30 of OTOG: This variant is not expected to have clinical significance because it has been identified in 0.6% (384/67268) of European chro mosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute .org; dbSNP rs117005078). Furthermore, this variant has been reported by our la boratory in 10 individuals with hearing loss, including 4 with an alternate gene tic etiology identified. |
Gene |
RCV000214949 | SCV000618434 | uncertain significance | not specified | 2017-08-01 | criteria provided, single submitter | clinical testing | The P1240L variant in the OTOG gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is observed in 4/1240 (0.32%) alleles from individuals of Finnish background in the ExAC dataset, and has been observed in the homozygous state in one presumably unaffected individual undergoing testing at GeneDx (Lek et al., 2016). The P1240L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret P1240L as a variant of uncertain significance. |
Invitae | RCV000969361 | SCV001116873 | likely benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000969361 | SCV001144840 | likely benign | not provided | 2018-09-12 | criteria provided, single submitter | clinical testing | |
Otology & Neurotology- |
RCV001254784 | SCV001167198 | uncertain significance | Ménière's disease | 2020-01-01 | criteria provided, single submitter | case-control |