ClinVar Miner

Submissions for variant NM_001039591.3(USP9X):c.1073T>A (p.Val358Asp)

dbSNP: rs2519133218
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003221561 SCV003918414 likely pathogenic not provided 2023-04-12 criteria provided, single submitter clinical testing De novo variant with confirmed parentage in a patient with USP9X-related disorder (Jolly et al., 2020); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33298948)

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