ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.5566_5569AAGA[1] (p.Lys1857fs) (rs886041706)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000364376 SCV000330438 pathogenic not provided 2016-04-15 criteria provided, single submitter clinical testing The c.5570_5573delAAGA pathogenic variant in the ARID1B gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant causes a frameshift starting with codon Lysine 1857, changes this amino acid to a Serine residue, and creates a premature Stop codon at position 17 of the new reading frame, denoted p.Lys1857SerfsX17. This variant is predicted to cause loss of normal protein function through protein truncation. The c.5570_5573delAAGA 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 c.5570_5573delAAGA as a pathogenic variant.
Genetic Services Laboratory, University of Chicago RCV000503710 SCV000593414 pathogenic Coffin-Siris syndrome 1 2017-01-29 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals RCV000503710 SCV000898142 pathogenic Coffin-Siris syndrome 1 2018-07-19 no assertion criteria provided clinical testing
OMIM RCV000503710 SCV000902411 pathogenic Coffin-Siris syndrome 1 2019-05-09 no assertion criteria provided literature only

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