ClinVar Miner

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

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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.
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 (http://evs.gs.washington.edu/ EVS/; dbSNP rs145019640), and because the arginine (Arg) residue at position 708 is not highly conserved across species.

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