ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2075G>A (p.Arg692Gln)

gnomAD frequency: 0.00005  dbSNP: rs147978393
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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 RCV000041480 SCV000065175 uncertain significance not specified 2013-01-29 criteria provided, single submitter clinical testing The Arg692Gln variant in OTOF has not been reported in the literature nor previo usly identified by our laboratory. Computational analyses (biochemical amino aci d properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Arg 692Gln variant is unlikely to impact the protein, though this information is not predictive enough to rule out pathogenicity. This variant has been identified i n 0.04% (2/4364) of African American chromosomes in a broad population by the NH LBI Exome sequencing project (http://evs.gs.washington.edu/EVS/; dbSNP rs1479783 93). Although this variant has been seen in the general population, its frequenc y is not high enough to rule out a pathogenic role. Additional data is needed to determine the clinical significance of this variant.
GeneDx RCV002273944 SCV002559299 uncertain significance not provided 2022-02-07 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002273944 SCV003467047 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002513588 SCV003532170 uncertain significance Inborn genetic diseases 2022-06-24 criteria provided, single submitter clinical testing The c.2075G>A (p.R692Q) alteration is located in exon 17 (coding exon 17) of the OTOF gene. This alteration results from a G to A substitution at nucleotide position 2075, causing the arginine (R) at amino acid position 692 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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