ClinVar Miner

Submissions for variant NM_002578.5(PAK3):c.1094C>A (p.Ala365Glu)

dbSNP: rs121434613
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003162241 SCV003915217 pathogenic not provided 2022-10-07 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect as A365E showed complete loss of kinase activity and protein instability (Kreis et al., 2007; Duarte et al., 2020); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31843706, 24556213, 12884430, 17537723)
OMIM RCV000012326 SCV000032560 pathogenic Intellectual disability, X-linked 30 2003-08-01 no assertion criteria provided literature only

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