ClinVar Miner

Submissions for variant NM_001101.5(ACTB):c.123+1G>A (rs794729643)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Human Genetics,Children's Hospital of Philadelphia RCV000185550 SCV000238432 uncertain significance Baraitser-Winter syndrome 1 2015-05-07 no assertion criteria provided research The heterozygous variant in the ACTB gene (c.123+1G>A) is considered a variant od uncertain significance. This variant has not been previously published and is not seen in the ExAC database, also there are no LOF variants for this gene in the ExAC database. The nucleotide position is highly conserved and part of a splice site with computational splice site predictors (SpliceSiteFinder-like, MaxEntScan, NNSplice, GeneSplicer, Human Splicing Finder) predicting a loss of the splice site.

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