ClinVar Miner

Submissions for variant NM_001292034.3(TAB2):c.1039C>T (p.Arg347Ter) (rs1057518422)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000412798 SCV000492035 likely pathogenic not provided 2016-12-05 criteria provided, single submitter clinical testing The R347X variant in the TAB2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R347X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R347X as a likely pathogenic variant.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626800 SCV000747503 likely pathogenic Migraine; Secundum atrial septal defect; Rectal prolapse; Stress urinary incontinence; Bicuspid aortic valve 2017-01-01 criteria provided, single submitter clinical testing

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