ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.5703dup (p.Lys1902Ter) (rs886041878)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000266986 SCV000511643 pathogenic not provided 2016-07-06 criteria provided, single submitter clinical testing
GeneDx RCV000266986 SCV000330668 pathogenic not provided 2016-07-15 criteria provided, single submitter clinical testing The c.5703dupT pathogenic variant in the ARID1B gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.5703dupT variant causes a frameshift starting with codon Lysine 1902, and changes this amino acid to a premature Stop codon, denoted p.Lys1902Ter. This variant is predicted to cause loss of normal protein function through protein truncation. The c.5703dupT variant was not observed in approximately 6,500 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 c.5703dupT as a pathogenic variant.

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