ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.4705C>T (p.Gln1569Ter)

dbSNP: rs797045278
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193003 SCV000246525 likely pathogenic Coffin-Siris syndrome 1 2014-11-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005055695 SCV005697402 pathogenic not provided 2024-06-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1446*) 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: 31530938). ClinVar contains an entry for this variant (Variation ID: 210293). For these reasons, this variant has been classified as Pathogenic.

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