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 2018-04-24 criteria provided, single submitter clinical testing The R2072H variant in the OTOG gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R2072H variant is observed in 4/5186 (0.077%) alleles from individuals of non-Finnish European background in the ExAC dataset (Lek et al., 2016). The R2072H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret R2072H as a variant of uncertain significance.
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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