ClinVar Miner

Submissions for variant NM_001039591.3(USP9X):c.209C>G (p.Thr70Ser)

dbSNP: rs2519087832
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003232016 SCV003930228 uncertain significance not provided 2023-05-30 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); If this variant does not affect splicing, it will result in a missense substitution. 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 RCV003232016 SCV004446033 uncertain significance not provided 2023-03-16 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 70 of the USP9X protein (p.Thr70Ser). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with USP9X-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. 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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