ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.3428del (p.Lys1143fs) (rs1554231830)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519776 SCV000620301 pathogenic not provided 2017-08-29 criteria provided, single submitter clinical testing The c.3428delA pathogenic variant in the ARID1B gene causes a frameshift starting with codon Lysine 1143, changes this amino acid to a Serine residue and creates a premature Stop codon at position 68 of the new reading frame, denoted p.Lys1143SerfsX68. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Furthermore, the c.3428delA variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Although this pathogenic variant has not been previously reported to our knowledge, its presence is consistent with the diagnosis of an ARID1B-related disorder in this individual.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.