ClinVar Miner

Submissions for variant NM_001378609.3(OTOGL):c.4234A>G (p.Met1412Val)

gnomAD frequency: 0.00002  dbSNP: rs774172292
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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, Mass General Brigham Personalized Medicine RCV000614166 SCV000711966 uncertain significance not specified 2016-06-28 criteria provided, single submitter clinical testing The p.Met1403Val variant in OTOGL has been previously identified by our laborato ry in the heterozygous state in two siblings with hearing loss due to an alterna te genetic cause in another gene and a variant affecting the remaining copy of O TOGL has not bee identified. This variant has been identified in 0.24% (26/10930 ) of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs774172292). Although this variant has been seen in th e general population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation analysis suggests that the variant may impact the protein, though this information is not predictive enoug h to determine pathogenicity. In summary, the clinical significance of the p.Met 1403Val variant is uncertain.
Baylor Genetics RCV001334655 SCV001527561 uncertain significance Autosomal recessive nonsyndromic hearing loss 84B 2018-01-01 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001662647 SCV001873626 uncertain significance not provided 2022-12-28 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
Invitae RCV001662647 SCV003258326 likely benign not provided 2023-10-07 criteria provided, single submitter clinical testing

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