ClinVar Miner

Submissions for variant NM_001039591.3(USP9X):c.4469C>T (p.Pro1490Leu)

dbSNP: rs1555929612
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000660636 SCV000782759 uncertain significance Intellectual disability, X-linked 99 2017-12-22 criteria provided, single submitter clinical testing
GeneDx RCV002266998 SCV002549634 uncertain significance not provided 2023-09-19 criteria provided, single submitter clinical testing 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: 33144682, 31443933)

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