ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln) (rs144800506)

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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 RCV000041492 SCV000065187 likely benign not specified 2017-07-20 criteria provided, single submitter clinical testing p.Arg792Gln in exon 20 of OTOF: This variant is not expected to have clinical si gnificance because it has been identified in 0.5% (111/21722) of African chromos omes including 2 homozygotes by the Genome Aggregation Database (gnomAD, http:// gnomad.broadinstitute.org; dbSNP rs144800506).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000514455 SCV000227732 uncertain significance not provided 2014-12-10 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514455 SCV000610512 uncertain significance not provided 2017-04-11 criteria provided, single submitter clinical testing
GeneDx RCV000514455 SCV000983866 likely benign not provided 2018-04-20 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 RCV000041492 SCV001157999 uncertain significance not specified 2018-11-28 criteria provided, single submitter clinical testing The OTOF c.2375G>A; p.Arg792Gln variant (rs144800506), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 48194). This variant is found in the African population with an allele frequency of 0.49% (111/22,566 alleles, including 2 homozygotes) in the Genome Aggregation Database. The arginine at codon 792 is moderately conserved, and computational analyses (SIFT: damaging, PolyPhen-2: benign) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Arg792Gln variant is uncertain at this time.
Illumina Clinical Services Laboratory,Illumina RCV001139248 SCV001299368 uncertain significance Deafness, autosomal recessive 9 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.

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