ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.7694G>C (p.Arg2565Pro) (rs563003848)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000606922 SCV000731593 uncertain significance not specified 2017-04-13 criteria provided, single submitter clinical testing The p.Arg2565Pro variant in OTOG has not been previously reported in individuals with hearing loss, but has been identified in 13/24534 Latino chromosomes by th e Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP r s563003848). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational predic tion tools and conservation analysis do not provide strong support for or agains t an impact to the protein. In summary, the clinical significance of the p.Arg25 65Pro variant is uncertain.
Baylor Genetics RCV001336341 SCV001529702 uncertain significance Deafness, autosomal recessive 18b 2018-01-30 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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