ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.5826G>A (p.Trp1942Ter)

dbSNP: rs1554237335
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268743 SCV001447891 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, University of Torino RCV002464433 SCV002760156 pathogenic Coffin-Siris syndrome 1 2022-11-29 criteria provided, single submitter research
Ambry Genetics RCV004960667 SCV005480798 pathogenic Inborn genetic diseases 2024-07-10 criteria provided, single submitter clinical testing The c.5457G>A (p.W1819*) alteration, located in exon 20 (coding exon 20) of the ARID1B gene, consists of a G to A substitution at nucleotide position 5457. This changes the amino acid from a tryptophan (W) to a stop codon at amino acid position 1819. This alteration occurs at the 3' terminus of the ARID1B gene, is not expected to trigger nonsense-mediated mRNA decay, and impacts the last 19.2% of the protein. However, premature stop codons are typically deleterious in nature, the impacted region is critical for protein function, and a significant portion of the protein is affected. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This variant was reported in an individual with features consistent with ARID1B-related Coffin-Siris syndrome (Wieczorek, 2013). Based on the available evidence, this alteration is classified as pathogenic.

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