ClinVar Miner

Submissions for variant NM_001277269.2(OTOG):c.[3719C>T] (rs117005078)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized 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.
GeneDx 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- Genomics of vestibular disorders (CTS-495),Jose Antonio López Escámez, Centro Pfizer - Universidad de Granada - Junta de Andalucía de Genómica e Investigación Oncológica (GENYO) RCV001254784 SCV001167198 uncertain significance Ménière's disease 2020-01-01 criteria provided, single submitter case-control

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