ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.5763_5766del (p.Phe1921fs)

dbSNP: rs1554237269
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501931 SCV000593413 pathogenic Coffin-Siris syndrome 1 2016-04-28 criteria provided, single submitter clinical testing
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV000782033 SCV000920500 likely pathogenic not provided 2018-07-25 criteria provided, single submitter clinical testing
GeneDx RCV000782033 SCV001168564 pathogenic not provided 2020-07-15 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation, as the last 452 amino acids are replaced with 51 different amino acids, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (Stenson et al., 2014); Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 25363768, 22495309, 23929686, 28191890, 30349098, 31332282, 31981491)
Clinical Genetics and Genomics, Karolinska University Hospital RCV000782033 SCV001449980 pathogenic not provided 2020-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000501931 SCV002054288 likely pathogenic Coffin-Siris syndrome 1 2021-07-15 criteria provided, single submitter clinical testing
3billion RCV000501931 SCV002521861 pathogenic Coffin-Siris syndrome 1 2022-05-22 criteria provided, single submitter clinical testing This variant has been reported as pathogenic more than twice (ClinVar ID: VCV000434390, PMID:23929686), along with assertion criteria based on the ACMG guidelines. It is absent from the gnomAD v2.1.1 dataset. The deletion creates a frameshift variant within 50 bp downstream of the penultimate exon or last exon. While it is expected to escape nonsense-mediated decay, the truncated region is considered critical. Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

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