ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.4273dup (p.Tyr1425fs) (rs879253746)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413328 SCV000491140 pathogenic not provided 2016-11-03 criteria provided, single submitter clinical testing The c.4273dupT pathogenic variant in the ARID1B gene has been reported previously as a de novo variant in an individual with intellectual disability, absent speech, and dysmorphic features (Sim et al., 2014). The duplication causes a frameshift starting with codon Tyrosine 1425, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 34 of the new reading frame, denoted p.Tyr1425LeufsX34. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. It 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.
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000234892 SCV000291996 pathogenic Blepharophimosis; Absent speech; Thick lower lip vermilion; Thin upper lip vermilion; Long eyelashes; Intellectual disability, moderate 2014-03-27 criteria provided, single submitter clinical testing

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