ClinVar Miner

Submissions for variant NM_001277269.2(OTOG):c.[421G>A] (rs552304627)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000216800 SCV000272254 uncertain significance not specified 2016-08-04 criteria provided, single submitter clinical testing The p.Val141Met variant in OTOG has been previously reported by our laboratory i n 1 individual with hearing loss, but a variant affecting the remaining copy of OTOG was not identified. This variant has been identified in 4/5062 European Ame rican chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadin stitute.org); however, this frequency in the general population is not high enou gh to rule out a pathogenic role. Computational prediction tools and conservatio n analyses suggest that the p.Val141Met variant may impact the protein, though t his information is not predictive enough to determine pathogenicity. This varian t is located in the last base of the exon, which is part of the 5? splice region . Splice site computational tools suggest a possible impact to splicing, however , this information is not predictive enough to determine pathogenicity. In summa ry, the clinical significance of the p.Val141Met variant is uncertain.
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) RCV001254781 SCV001167195 likely pathogenic Meniere disease 2020-01-01 criteria provided, single submitter case-control
Baylor Genetics RCV001333066 SCV001525551 uncertain significance Deafness, autosomal recessive 18b 2019-01-16 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001546177 SCV001765650 likely benign not provided 2020-12-08 criteria provided, single submitter clinical testing

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