ClinVar Miner

Submissions for variant NM_001039591.3(USP9X):c.7431+9dup (rs774054468)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483382 SCV000573523 pathogenic not provided 2018-03-13 criteria provided, single submitter clinical testing The c.7440dupA pathogenic variant in the USP9X gene causes a frameshift starting with codon Alanine 2481, changes this amino acid to a Serine residue, and creates a premature Stop codon at position 17 of the new reading frame, denoted p.Ala2481SerfsX17. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.7440dupA variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).
Genetic Services Laboratory,University of Chicago RCV000502528 SCV000597843 uncertain significance not specified 2016-06-03 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509263 SCV000607040 not provided USP9X related disorders no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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