ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.5381T>C (p.Leu1794Pro) (rs61744602)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000603253 SCV000712030 likely benign not specified 2016-06-28 criteria provided, single submitter clinical testing p.Leu1794Pro in exon 35 of OTOG: This variant is not expected to have clinical s ignificance due to a lack of conservation across species, including mammals. Of note, 10 mammals have a proline (Pro) at this position despite high nearby amino acid conservation. In addition, computational prediction tools do not suggest a high likelihood of impact to the protein. The variant has also been seen in 9/5 336 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.; dbSNP rs61744602).
GeneDx RCV000603253 SCV000718778 likely benign not specified 2017-10-10 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001311740 SCV001502032 likely benign not provided 2020-09-01 criteria provided, single submitter clinical testing
Division of Human Genetics,Children's Hospital of Philadelphia RCV000477881 SCV000536847 uncertain significance Deafness, autosomal recessive 18b 2015-12-04 no assertion criteria provided research

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