ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.1078G>A (p.Ala360Thr) (rs191354103)

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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 RCV000223180 SCV000270646 likely benign not specified 2015-10-04 criteria provided, single submitter clinical testing p.Ala360Thr in exon 9 of OTOG: This variant is not expected to have clinical si gnificance because it has been identified in 0.34% (1/292) of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSN P rs191354103), and because of a lack of conservation across species, including mammals. Of note, 7 mammals have a threonine (Thr) at this position despite high nearby amino acid conservation.
Athena Diagnostics Inc RCV000992484 SCV001144832 uncertain significance not provided 2018-09-12 criteria provided, single submitter clinical testing

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