ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.3843dup (p.Phe1282fs) (rs1554233166)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481518 SCV000573122 pathogenic not provided 2017-02-07 criteria provided, single submitter clinical testing The c.3843dupC variant in the ARID1B gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.3843dupC variant causes a frameshift starting with codon Phenylalanine 1282, changes this amino acid to a Leucine residue, and creates a premature Stop codon at position 39 of the new reading frame, denoted p.Phe1282LeufsX39. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.3843dupC variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.3843dupC as a pathogenic variant.

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