ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2123G>A (p.Arg708Gln) (rs145019640)

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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, Partners HealthCare Personalized Medicine RCV000041482 SCV000065177 likely benign not specified 2013-10-11 criteria provided, single submitter clinical testing Arg708Gln in Exon 18 of OTOF: This variant is not expected to have clinical sign ificance because it has been identified in 0.1% (12/8598) of European American chromosomes by the NHLBI Exome Sequencing Project ( EVS/; dbSNP rs145019640), and because the arginine (Arg) residue at position 708 is not highly conserved across species.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723602 SCV000331366 uncertain significance not provided 2015-07-28 criteria provided, single submitter clinical testing
GeneDx RCV000723602 SCV000589968 uncertain significance not provided 2018-09-10 criteria provided, single submitter clinical testing The R708Q variant in the OTOF gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R708Q variant is observed in 95/62772 (0.15%) alleles from individuals of European background in large population cohorts (Lek et al., 2016). The R708Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, this substitution occurs at a position that is not conserved, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret R708Q as a variant of uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV001139252 SCV001299373 uncertain significance Deafness, autosomal recessive 9 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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