ClinVar Miner

Submissions for variant NM_001101.5(ACTB):c.625G>A (p.Val209Met) (rs587779777)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116222 SCV000150134 likely pathogenic Baraitser-Winter syndrome 1 2013-07-02 criteria provided, single submitter clinical testing
GeneDx RCV000680682 SCV000808126 pathogenic not provided 2018-06-04 criteria provided, single submitter clinical testing The V209M variant in the ACTB gene has been reported previously as V209L, with the same nucleotide change, in an individual with BWCFF who developed acute lymphoblastic leukemia at age eight (Verloes et al., 2015a). The V209M variant is not observed in large population cohorts (Lek et al., 2016). The V209M variant is a conservative amino acid substitution and in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. However, the majority of missense variants in ACTB are considered pathogenic (Stenson et al., 2014). We interpret V209M as a pathogenic variant.
Department of Genetics,Robert DEBRE University Hospital RCV000116222 SCV000148646 pathogenic Baraitser-Winter syndrome 1 2014-04-15 no assertion criteria provided clinical testing

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