ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.6199C>T (p.Arg2067Ter)

dbSNP: rs1028186690
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris RCV000496177 SCV000586772 pathogenic Coffin-Siris syndrome 1 2017-01-06 criteria provided, single submitter clinical testing hypotonia; Intellectual disability, moderate; dysmorphism
GeneDx RCV001548527 SCV001768454 pathogenic not provided 2023-02-28 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation, as the last 306 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28708303, 31844183, 29102090, 33619735, 34918830)
Genome-Nilou Lab RCV000496177 SCV002054295 pathogenic Coffin-Siris syndrome 1 2021-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001548527 SCV003460768 pathogenic not provided 2024-02-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1944*) in the ARID1B gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 306 amino acid(s) of the ARID1B protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with neurodevelopmental disorders (PMID: 28708303). ClinVar contains an entry for this variant (Variation ID: 431136). This variant disrupts a region of the ARID1B protein in which other variant(s) (p.Arg2128*) have been determined to be pathogenic (PMID: 33619735). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV000496177 SCV005417646 likely pathogenic Coffin-Siris syndrome 1 criteria provided, single submitter clinical testing PM2_Supporting+PVS1_Strong+PS4_Supporting+PM6_Supporting

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