ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.2525C>A (p.Pro842His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001293549 SCV001482147 uncertain significance not specified 2021-02-12 criteria provided, single submitter clinical testing Variant summary: OTOG c.2561C>A (p.Pro854His) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00016 in 149590 control chromosomes, predominantly within the South Asian subpopulation at a frequency of 0.001 (gnomAD v2.1 database). To our knowledge, no occurrence of c.2561C>A in individuals affected with Deafness, Autosomal Recessive 18b and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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