ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.3571G>T (p.Asp1191Tyr) (rs772807679)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493244 SCV000581770 uncertain significance not provided 2017-05-02 criteria provided, single submitter clinical testing The c.3571G>T variant in the OTOF gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The c.3571G>T variant is observed in 3/11532 (0.03%) alleles from individuals of Latino background in the ExAC dataset, and no individuals were reported to be homozygous (Lek et al., 2016). In-silico splice prediction models predict that c.3571G>T may damage the natural splice acceptor site of intron 28 and enhance a nearby cryptic splice acceptor site. However, in the absence of RNA/functional studies, the actual effect of the c.3571G>T change in this individual is unknown. If c.3985G>T does not alter splicing, it will result in the D1191Y missense change. The D1191Y variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret c.3571G>T as a variant of uncertain significance.

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