ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.1245del (p.Thr416fs) (rs886041707)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000269823 SCV000330439 pathogenic not provided 2017-05-08 criteria provided, single submitter clinical testing The c.1245delC 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.1245delC variant causes a frameshift starting with Threonine 416, changes this amino acid to a Proline residue, and creates a premature Stop codon at position 14 of the new reading frame, denoted p.Thr416ProfsX14. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1245delC variant was not observed in approximately 5300 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.1245delC as a pathogenic variant.

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