ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.5462_5466del (p.Leu1821fs) (rs1131691508)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493565 SCV000582266 likely pathogenic not provided 2017-05-15 criteria provided, single submitter clinical testing The c.5462_5466delTCGGC variant in the ARID1B gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.5462_5466delTCGGC variant causes a frameshift starting with codon Leucine 1821, changes this amino acid to an Arginine residue, and creates a premature Stop codon at position 3 of the new reading frame, denoted p.Leu1821ArgfsX3. This variant is predicted to cause loss of normal protein function through protein truncation as the last 429 amino acids are replaced by 2 incorrect amino acids. The c.5462_5466delTCGGC variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.5462_5466delTCGGC as a likely pathogenic variant.

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