ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.6215G>A (p.Arg2072His) (rs188527711)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000766973 SCV000619639 uncertain significance not provided 2021-05-19 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously reported as pathogenic or benign in association with hearing loss to our knowledge; This variant is associated with the following publications: (PMID: 28050010)
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000523753 SCV000711617 uncertain significance not specified 2017-08-10 criteria provided, single submitter clinical testing The p.Arg2072His variant in OTOG has not been previously reported in individuals with hearing loss but has been identified in 0.14% (93/66920) of European chrom osomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute. org; dbSNP rs188527711). Although this variant has been seen in the general popu lation, its frequency is not high enough to rule out a pathogenic role. Computat ional prediction tools and conservation analysis do not provide strong support f or or against an impact to the protein. In summary, the clinical significance of the p.Arg2072His variant is uncertain.
Fulgent Genetics,Fulgent Genetics RCV000763723 SCV000894607 uncertain significance Deafness, autosomal recessive 18b 2018-10-31 criteria provided, single submitter clinical testing

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