ClinVar Miner

Submissions for variant NM_001039591.3(USP9X):c.7454C>A (p.Pro2485Gln)

gnomAD frequency: 0.00001  dbSNP: rs2063351416
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV001780023 SCV002016266 uncertain significance Neurodevelopmental disorder 2021-06-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003679071 SCV004412562 uncertain significance not provided 2024-08-19 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 2501 of the USP9X protein (p.Pro2501Gln). 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. ClinVar contains an entry for this variant (Variation ID: 1321943). 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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