ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.433G>A (p.Gly145Ser) (rs186893662)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000609295 SCV000711614 uncertain significance not specified 2017-09-02 criteria provided, single submitter clinical testing The p.Gly145Ser variant in OTOG has not been previously reported in individuals with hearing loss, but has been identified in 0.3% (6/2276) of Ashkenazi Jewish and 0.1% (40/41916) of European chromosomes by the Genome Aggregation Database ( gnomAD, http://gnomad.broadinstitute.org; dbSNP rs186893662). This variant has a lso been reported in ClinVar (Variation ID 417886). Although this variant has be en seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation analysis sugg est that the p.Gly145Ser variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical s ignificance of the p.Gly145Ser variant is uncertain.
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center RCV001375221 SCV001571923 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PM2_Supporting, PP3_Supporting
Division of Human Genetics,Children's Hospital of Philadelphia RCV000477901 SCV000536773 uncertain significance Deafness, autosomal recessive 18b 2015-05-27 no assertion criteria provided research
GeneDx RCV001576980 SCV001804277 uncertain significance not provided 2020-07-21 no assertion criteria provided clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 32048449)

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