ClinVar Miner

Submissions for variant NM_001101.5(ACTB):c.351G>T (p.Glu117Asp)

dbSNP: rs765265404
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000496164 SCV000586720 pathogenic Baraitser-Winter syndrome 1 2017-08-01 criteria provided, single submitter clinical testing The de novo missense variant c.351G>T, p.(Glu117Asp) in ACTB was identified in a girl with severe ID, congenital heart defect, cleft lip and palate and epilepsy. At the same position, another missense variant p.(Glu117Lys) was previously reported in a patient with atypical Baraitser-Winter syndrome.

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