ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.3704G>C (p.Gly1235Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Motol Hospital RCV004808513 SCV005431438 likely pathogenic Coffin-Siris syndrome 1 2024-12-13 criteria provided, single submitter clinical testing This variant was detected in a male with mild intellectual disability, specific articulation disorder, hypotonia, nystagmus, facial dysmorphism, eczematoid dermatitis. The variant was confirmed to be of a de novo origin. Rare missense variants affecting the ARID1B gene are documented as a molecular cause of "Coffin-Siris syndrome 1" (CSS1, OMIM:135900) and ARID1B-related BAFopathy (PMID:30349098;27474218;26376624;25674384). A different missense variant c.3704G>A, p.(Gly1235Asp) on the same position is reported as likely pathogenic.To conclude, the variant is classified as likely pathogenic (ACMG PM2, PS2, PM5, PP3).

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