ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.973C>A (p.Pro325Thr) (rs777809121)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727248 SCV000706950 uncertain significance not provided 2017-03-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000593340 SCV000731447 likely benign not specified 2017-02-02 criteria provided, single submitter clinical testing p.Pro325Thr in exon 8 of OTOG: This variant is not expected to have clinical sig nificance due to a lack of conservation across species, including mammals. Of no te, naked mole rat, bush tailed rat and guinea pig have a threonine (Thr) at thi s position despite nearby amino acid sequence conservation. In addition, computa tional prediction tools do not suggest a high likelihood of impact to the protei n. It has been identified in 5/67340 European chromosomes by the Genome Aggregat ion Database (gnomAD, http://gnomad.broadinstitute.org/).
GeneDx RCV000727248 SCV001778458 uncertain significance not provided 2020-07-31 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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