ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.6103del (p.Ser2035fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV003330048 SCV004034083 likely pathogenic Coffin-Siris syndrome 1 2023-09-12 criteria provided, single submitter clinical testing The variant c.5983del (p.(Ser1995Valfs*62)) in exon 20 of the ARID1B-gene is not found in the gnomAD database, it creates a frame shift starting at codon Ser1995. The new reading frame ends in a STOP codon at position 62. Frameshift variants leading to a loss of function of ARID1B protein are a known mechanism of disease. This variant was found to be de novo in a patient with suspected Coffin-Siris Syndrom (PMID: 33768696, indicated here as NM_020732.3:c.5734del p.(Ser1912Valfs*62)). ACMG criteria used for classification: PVS1_str, PM2_supp, PP5.

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