ClinVar Miner

Submissions for variant NM_001039591.3(USP9X):c.5216C>A (p.Thr1739Asn)

dbSNP: rs1064795335
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483949 SCV000571036 likely pathogenic not provided 2016-07-28 criteria provided, single submitter clinical testing The T1739N variant in the USP9X gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The T1739N variant was not observed in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The T1739N variant is a conservative amino acid substitution, which occurs at a position within the USP domain that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. The T1739N variant is a strong candidate for a pathogenic variant

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