ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.2458C>T (p.Arg820Ter)

dbSNP: rs797045272
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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 RCV000193875 SCV000246509 pathogenic Coffin-Siris syndrome 1 2015-08-05 criteria provided, single submitter clinical testing
GeneDx RCV000578614 SCV000680673 pathogenic not provided 2021-09-10 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 23906836, 30349098)
CeGaT Center for Human Genetics Tuebingen RCV000578614 SCV001250190 pathogenic not provided 2023-10-01 criteria provided, single submitter clinical testing ARID1B: PVS1, PS2, PM2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000578614 SCV001447742 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000193875 SCV002054272 pathogenic Coffin-Siris syndrome 1 2021-07-15 criteria provided, single submitter clinical testing
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV000193875 SCV002766671 pathogenic Coffin-Siris syndrome 1 2020-06-11 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.1.1, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss-of-function is a known mechanism of disease for this gene. (N) 0107 - This gene is known to be associated with autosomal dominant disease. (N) 0201 - Variant is located in exon 6 of 20 and is predicted to cause nonsense-mediated decay (NMD) and loss of protein. (P) 0251 - Variant is heterozygous. (N) 0301 - Variant is absent from gnomAD. (P) 0701 - Comparable variants have very strong previous evidence for pathogenicity. More than 10 NMD-predicted variants have been reported in this gene (ClinVar). (P) 0801 - Strong previous evidence of pathogenicity in unrelated individuals. This variant has been found in 7 patients with Coffin-Siris syndrome and ARID1B-related disorders (PMID: 25217958, 23906836; ClinVar). (P) 0905 - No segregation evidence has been identified for this variant. (N) 1007 - No published functional evidence has been identified for this variant. (N) 1203 - Variant shown to be de novo in proband (parental status confirmed). (P) Legend: (P) - Pathogenic, (N) - Neutral, (B) - Benign

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