ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.5547dup (p.Ser1851fs) (rs35441529)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000359978 SCV000330495 pathogenic not provided 2018-09-24 criteria provided, single submitter clinical testing The c.5547dupC pathogenic variant in the ARID1B gene has been reported previously (as c.5508dup due to the use of alternative nomenclature) in an individual with intellectual disability (Grozeva et al., 2015). The c.5547dupC variant causes a frameshift starting with codon Serine 1851, changes this amino acid to a Lysine residue, and creates a premature Stop codon at position 5 of the new reading frame, denoted p.Ser1851LysfsX5. This variant is predicted to cause loss of normal protein function through protein truncation. The c.5547dupC 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.5547dupC as a pathogenic variant.

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