ClinVar Miner

Submissions for variant NM_016188.5(ACTL6B):c.703AAG[2] (p.Lys237del)

dbSNP: rs755552228
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV005416710 SCV006083900 uncertain significance not provided 2024-12-09 criteria provided, single submitter clinical testing Observed in an individual with a neurodevelopmental disorder in published literature, but additional clinical information was not provided (PMID: 37500730); Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 1 amino acid(s) in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 37500730)
Houlden Lab, UCL Institute of Neurology RCV003331539 SCV003920667 pathogenic Developmental and epileptic encephalopathy, 76 no assertion criteria provided research

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