ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.514G>A (p.Gly172Arg)

dbSNP: rs397517949
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Total submissions: 1
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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 RCV000041567 SCV000065262 uncertain significance not specified 2010-10-05 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Gly172Arg varia nt in OTOF has not been reported in the literature nor previously identified by our laboratory. This residue is conserved across species and computational analy ses (PolyPhen, SIFT, AlignGVGD) suggest that the Gly172Arg variant may impact th e protein. However, this information is not predictive enough to assume pathogen icity. In summary, the clinical significance of this variant cannot be determine d with at this time.

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