ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.3673C>T (p.Arg1225Ter)

dbSNP: rs387907141
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000254764 SCV000322097 pathogenic not provided 2021-12-16 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; Tsurusaki et al. (2012) confirmed the nonsense mediated RNA decay using RT-PCR in lymhoblastoid cell line derived from the patient harboring this variant; Not observed at significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 22405089, 31077186, 22426308, 30349098, 27112773, 32339967, 28191889)
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn RCV000024209 SCV000999329 pathogenic Coffin-Siris syndrome 1 criteria provided, single submitter clinical testing
Baylor Genetics RCV001533118 SCV001748938 pathogenic ARID1B-related BAFopathy 2021-06-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000024209 SCV002054277 pathogenic Coffin-Siris syndrome 1 2021-07-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000024209 SCV002805720 pathogenic Coffin-Siris syndrome 1 2021-08-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000254764 SCV004294427 pathogenic not provided 2024-10-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1102*) in the ARID1B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ARID1B are known to be pathogenic (PMID: 25674384, 30349098). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Coffin-Siris syndrome (PMID: 22405089). ClinVar contains an entry for this variant (Variation ID: 31210). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000024209 SCV000045500 pathogenic Coffin-Siris syndrome 1 2012-03-18 no assertion criteria provided literature only

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