ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.3101T>C (p.Ile1034Thr)

gnomAD frequency: 0.00002  dbSNP: rs779785339
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508156 SCV000604579 uncertain significance not specified 2016-10-12 criteria provided, single submitter clinical testing
GeneDx RCV001580506 SCV001817708 uncertain significance not provided 2020-12-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001580506 SCV003485577 uncertain significance not provided 2022-05-25 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1034 of the OTOF protein (p.Ile1034Thr). This variant is present in population databases (rs779785339, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with OTOF-related conditions. ClinVar contains an entry for this variant (Variation ID: 440014). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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