ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.371C>T (p.Pro124Leu)

gnomAD frequency: 0.00016  dbSNP: rs542646349
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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, Mass General Brigham Personalized Medicine RCV000614361 SCV000731972 likely benign not specified 2017-09-21 criteria provided, single submitter clinical testing p.Pro136Leu in exon 4 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, three mammals (oranutang, cow, tenrec) have a leucine (Leu) at this position despite high nearby amino acid conservation. In addition, computational predict ion tools do not suggest a high likelihood of impact to the protein. It has also been identified in 0.1% (12/11744) of East Asian chromosomes and 38/173206 tota l chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadins titute.org; dbSNP rs542646349).
GeneDx RCV001796141 SCV002032439 uncertain significance not provided 2021-06-07 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)

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