ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.7975G>A (p.Val2659Met)

gnomAD frequency: 0.00051  dbSNP: rs542442173
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Total submissions: 3
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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 RCV000215131 SCV000270687 likely benign not specified 2016-02-04 criteria provided, single submitter clinical testing p.Val267Met in exon 49 of OTOG: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of n ote, four mammals have a methionine (Met) at this position. It has been identifi ed in 1/5042 of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org;dbSNP rs542442173).
GeneDx RCV001545768 SCV001765159 uncertain significance not provided 2020-05-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001545768 SCV003275340 uncertain significance not provided 2024-10-24 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 2671 of the OTOG protein (p.Val2671Met). This variant is present in population databases (rs542442173, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with OTOG-related conditions. ClinVar contains an entry for this variant (Variation ID: 227802). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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