ClinVar Miner

Submissions for variant NM_001378609.3(OTOGL):c.3488A>G (p.Asp1163Gly)

gnomAD frequency: 0.00195  dbSNP: rs202085918
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727254 SCV000707014 uncertain significance not provided 2017-04-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000596108 SCV000711630 likely benign not specified 2017-05-25 criteria provided, single submitter clinical testing p.Asp1154Gly in exon 30 of OTOGL: This variant is not expected to have clinical significance because it has been identified in 0.3% (408/124060) of European chr omosomes including 1 homozygote by the Genome Aggregation Database (gnomAD, http ://gnomad.broadinstitute.org; dbSNP rs202085918).
Baylor Genetics RCV001334654 SCV001527560 uncertain significance Autosomal recessive nonsyndromic hearing loss 84B 2018-07-16 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV000727254 SCV001982079 uncertain significance not provided 2021-09-20 criteria provided, single submitter clinical testing Has not been previously reported in association with hearing loss to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23486545)
Labcorp Genetics (formerly Invitae), Labcorp RCV000727254 SCV002479641 benign not provided 2024-01-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915730 SCV004743713 likely benign OTOGL-related disorder 2019-04-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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