ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.7081A>G (p.Ile2361Val) (rs191722806)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520779 SCV000619062 uncertain significance not specified 2017-07-10 criteria provided, single submitter clinical testing The I2361V variant in the OTOG gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The I2361V variant is observed in 28/1,338 (2.1%) alleles from individuals of African background, with one homozygous control individual reported, in the ExAC dataset (Lek et al., 2016). The I2361V 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 where amino acids with similar properties to Isoleucine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret I2361V as a variant of uncertain significance.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000520779 SCV000711524 benign not specified 2016-10-13 criteria provided, single submitter clinical testing p.Ile2361Val in exon 41 of OTOG: This variant is not expected to have clinical s ignificance because it has been identified in 2.1% (28/1338) of African chromoso mes by the Exome Aggregation Consortium (ExAC,; d bSNP rs191722806).
Invitae RCV000972819 SCV001120547 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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