ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.2078del (p.Leu693fs)

dbSNP: rs2128210949
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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 RCV001574078 SCV001797288 likely pathogenic Coffin-Siris syndrome 1 2021-08-20 criteria provided, single submitter clinical testing The variant c.2117del (p.(Leu706Profs*45)) in exon 4 of the ARID1B-gene is not found in the gnomAD database, it creates a frame shift starting at codon Leu706. The new reading frame ends in a STOP codon at position 45. Frameshift variants leading to a loss of function of ARID1B protein are a known mechanism of disease. ACMG criteria used for classification: PVS1, PM2.

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