ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.1051G>A (p.Ala351Thr) (rs756177290)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825079 SCV000966317 benign not specified 2018-04-12 criteria provided, single submitter clinical testing p.Ala363Thr in exon 9 of OTOG: This variant is classified as benign due to the f requency in the general population and lack of conservation across species, incl uding mammals. Of note, white rhinoceros, hedgehog, cape golden mole, and armadi llo have a threonine (Thr) at this position despite high nearby amino acid cons ervation. In addition, computational prediction tools do not suggest a high like lihood of impact to the protein. It has also been identified in 0.34% (29/8398) of Ashkenazi Jewish chromosomes by the Genome Aggregation Database (gnomAD, http ://gnomad.broadinstitute.org; dbSNP rs756177290). ACMG/AMP Criteria applied: BS1 ; BP4_Strong.

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