ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.3304C>T (p.Arg1102Ter) (rs387907141)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000254764 SCV000322097 pathogenic not provided 2016-05-09 criteria provided, single submitter clinical testing The R1102X pathogenic variant in the ARID1B gene has been reported previously in an individual ascertained based on her clinical diagnosis of Coffin-Siris syndrome, and as a de novo variant in an individual with intellectual disability, dysmorphic features, and hearing loss (Hoyer et al., 2012; Tsurusaki et al., 2012). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay; Tsurusaki et al. (2012) confirmed the nonsense mediated RNA decay using RT-PCR in lymhoblastoid cell line derived from the patient harboring this variant. The R1102X 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 R1102X as a pathogenic variant.
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn RCV000024209 SCV000999329 pathogenic Coffin-Siris syndrome 1 criteria provided, single submitter clinical testing
OMIM RCV000024209 SCV000045500 pathogenic Coffin-Siris syndrome 1 2012-03-18 no assertion criteria provided literature only

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