ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.245G>A (p.Arg82His) (rs149766574)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041499 SCV000065194 benign not specified 2012-05-16 criteria provided, single submitter clinical testing Arg82His in Exon 04 of OTOF: This variant is not expected to have clinical signi ficance because it has been identified in 0.6% (24/3738) of African American chr omosomes from a broad population by the NHLBI Exome Sequencing Project (http://e vs.gs.washington.edu/EVS; dbSNP rs149766574).
Illumina Clinical Services Laboratory,Illumina RCV000315368 SCV000429656 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000767023 SCV000620270 uncertain significance not provided 2017-08-24 criteria provided, single submitter clinical testing The R82H variant in the OTOF gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. It is reported as benign in ClinVar by a different clinical laboratory, but additional evidence is not available (ClinVar SCV000065194.4; Landrum et al., 2015). The R82H variant is observed in 50/7412 (0.68%) alleles from individuals of African background in the ExAC dataset, and no individuals were reported to be homozygous (Lek et al., 2016). The R82H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret R82H as a variant of uncertain significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041499 SCV000860989 likely benign not specified 2018-04-30 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000785039 SCV000923592 uncertain significance Deafness, autosomal recessive 9 2019-01-01 criteria provided, single submitter clinical testing
Invitae RCV000767023 SCV001039162 likely benign not provided 2019-02-27 criteria provided, single submitter clinical testing

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