ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.7546G>A (p.Ala2516Thr) (rs548278514)

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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 RCV000221973 SCV000270680 likely benign not specified 2016-02-23 criteria provided, single submitter clinical testing p.Ala2516Thr in exon 44 of OTOG: This variant is not expected to have clinical s ignificance due to a lack of conservation across species, including mammals, sug gesting that variants at this position are tolerated. Of note, 5 mammals (Bactri an camel, elephant shrew, oposum, Tasmanian devil, and wallaby) have a threonine (Thr) this position despite high nearby amino acid conservation. In addition, c omputational prediction tools do not suggest a high likelihood of impact to the protein. The variant has been reported in 2/802 African chromosomes by the Exome Aggregate Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs548278514) .
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727023 SCV000704999 uncertain significance not provided 2017-01-18 criteria provided, single submitter clinical testing

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