ClinVar Miner

Submissions for variant NM_144672.4(OTOA):c.2229C>T (p.Ala743=)

gnomAD frequency: 0.03046  dbSNP: rs461179
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Total submissions: 8
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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 RCV000151588 SCV000199740 benign not specified 2015-03-02 criteria provided, single submitter clinical testing p.Ala743Ala in Exon 20 of OTOA: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence and it has been identified in 0.4% (490/11461 0) of chromosomes including 62 individuals who were homozygous by the Exome Aggr egation Consortium (ExAC, http://exac.broadinstitute.org; rs139312489).
Eurofins Ntd Llc (ga) RCV000151588 SCV000227728 benign not specified 2014-12-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000151588 SCV000316026 benign not specified 2016-02-29 criteria provided, single submitter clinical testing
GeneDx RCV000151588 SCV000718137 benign not specified 2018-02-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757585 SCV000885874 benign Autosomal recessive nonsyndromic hearing loss 22 2023-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001723715 SCV005293112 benign not provided criteria provided, single submitter not provided
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001723715 SCV001951132 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001723715 SCV001971311 likely benign not provided no assertion criteria provided clinical testing

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