ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.935A>G (p.His312Arg) (rs189159426)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000222362 SCV000272270 likely benign not specified 2018-01-18 criteria provided, single submitter clinical testing p.His312Arg variant in exon 8 of OTOG: This variant is not expected to have clin ical significance because it has been identified in 0.454% (112/24678) of Latino chromosomes, including 1 homozygous individual, by the Genome Aggregation Datab ase (gnomAD, http://gnomad.broadinstitute.org; rs189159426). In addition, histid ine (His) at position 312 is not conserved through species, with two mammals (pa cific walrus and hedgehog) having an arginine (Arg) at this position. ACMG/AMP C riteria applied: BS1, BP4.
GeneDx RCV000222362 SCV000618380 likely benign not specified 2018-02-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Division of Human Genetics,Children's Hospital of Philadelphia RCV000477952 SCV000536825 uncertain significance Deafness, autosomal recessive 18b 2015-11-03 no assertion criteria provided research

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