ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.6382C>T (p.Arg2128Ter) (rs1554238072)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523285 SCV000616640 pathogenic not provided 2017-07-17 criteria provided, single submitter clinical testing The R2128X variant in the ARID1B gene has been reported previously as a de novo variant in an individual with Coffin-Siris syndrome (Wieczorek et al., 2013). This variant is predicted to cause loss of normal protein function through protein truncation, as the last 122 amino acids are lost. Furthermore, the R2128X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Therefore, the presence of the R2128X pathogenic variant is consistent with the diagnosis of an ARID1B-related disorder in this individual.
Ambry Genetics RCV000717396 SCV000848246 pathogenic History of neurodevelopmental disorder 2016-11-16 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;Rarity in general population databases (dbsnp, esp, 1000 genomes)
Institute of Human Genetics,Klinikum rechts der Isar RCV000995695 SCV001150009 pathogenic Coffin-Siris syndrome 1 2018-06-21 criteria provided, single submitter clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV000995695 SCV001423633 pathogenic Coffin-Siris syndrome 1 2018-08-16 criteria provided, single submitter clinical testing [ACMG/AMP: PVS1, PS2, PM2, PP5] This alteration is a null variant in a gene where LOF is a known mechanism of disease [PVS1], is de novo in origin as it was not detected in the submitted parental specimens (identity confirmed) [PS2], is absent from or rarely observed in large-scale population databases [PM2], was reported as a pathogenic/likely pathogenic alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory) [PP5].

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