ClinVar Miner

Submissions for variant NM_016188.5(ACTL6B):c.893G>A (p.Arg298Gln)

gnomAD frequency: 0.00001  dbSNP: rs1060499738
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000454131 SCV000537917 likely pathogenic Global developmental delay; Intellectual disability criteria provided, single submitter research ACTL6B is a component of brain-specific chromatin remodeling complexes containing the ATPases Brg1 (SMARCA4) and Brm (SMARCA2). Several SMARCA genes are konown to be associated with DD/ID syndromes
OMIM RCV000785966 SCV000924551 pathogenic Developmental and epileptic encephalopathy, 76 2020-11-25 no assertion criteria provided literature only
Houlden Lab, UCL Institute of Neurology RCV000785966 SCV003920672 likely pathogenic Developmental and epileptic encephalopathy, 76 no assertion criteria provided research

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