ClinVar Miner

Submissions for variant NM_001101.5(ACTB):c.349G>A (p.Glu117Lys)

dbSNP: rs397515470
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003441738 SCV004167725 pathogenic not provided 2023-10-27 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect with significantly decreased adherence and motility of cells and improper F-actin dynamics (PMID: 23649928); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed in large population cohorts (gnomAD); Missense variants in this gene are a common cause of disease and they are underrepresented in the general population; This variant is associated with the following publications: (PMID: 25052316, 30733661, 23649928)
OMIM RCV000056289 SCV000087459 pathogenic Baraitser-Winter syndrome 1 2013-09-01 no assertion criteria provided literature only
Department of Genetics, Robert DEBRE University Hospital RCV000056289 SCV000148639 pathogenic Baraitser-Winter syndrome 1 2014-04-15 no assertion criteria provided clinical testing

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