ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.6703G>A (p.Val2235Met) (rs572886375)

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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 RCV000213540 SCV000270675 likely benign not specified 2016-02-02 criteria provided, single submitter clinical testing p.Val2235Met in exon 39 of OTOG: This variant is not expected to have clinical s ignificance due to a lack of conservation across species, including mammals. Of note, 5 mammals (orangutan, rhesus, crab-eating macaque, baboon and green monkey ) have a methionine (Met) at this position despite high nearby amino acid conser vation. In addition, computational prediction tools do not suggest a high likeli hood of impact to the protein.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726878 SCV000703790 uncertain significance not provided 2016-12-08 criteria provided, single submitter clinical testing

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