ClinVar Miner

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

dbSNP: rs587779777
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Total submissions: 9
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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 2020-08-26 criteria provided, single submitter clinical testing 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); Not observed in large population cohorts (Lek et al., 2016); The majority of missense variants in this gene are considered pathogenic; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28191890, 30733661, 25052316, 28991257)
Centogene AG - the Rare Disease Company RCV000116222 SCV001426625 likely pathogenic Baraitser-Winter syndrome 1 criteria provided, single submitter clinical testing
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV000116222 SCV001429963 pathogenic Baraitser-Winter syndrome 1 2020-06-19 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000680682 SCV001447921 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Baylor Genetics RCV001533048 SCV001748868 pathogenic ACTB-related BAFopathy 2021-06-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000680682 SCV003917134 pathogenic not provided 2023-02-01 criteria provided, single submitter clinical testing ACTB: PS2, PM2, PS4:Moderate, PP2, PP3
Ambry Genetics RCV003258667 SCV003981402 pathogenic Inborn genetic diseases 2023-05-23 criteria provided, single submitter clinical testing The c.625G>A (p.V209M) alteration is located in exon 4 (coding exon 3) of the ACTB gene. This alteration results from a G to A substitution at nucleotide position 625, causing the valine (V) at amino acid position 209 to be replaced by a methionine (M). The ACTB c.625G>A (p.V209M) alteration is classified as pathogenic for Baraitser-Winter syndrome; however, its clinical significance for ACTB-related pleiotropic malformation syndrome is unclear. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This alteration, also referred to as c.625G>A (p.V209L), was reported in multiple individuals with features consistent with Baraitser-Winter syndrome (Verloes, 2015; Bertoli-Avella, 2021), including an individual with a de novo occurrence (Jin, 2017; Edwards, 2020; Gonzalez-Teran, 2022). This amino acid position is highly conserved in available vertebrate species. This missense alteration is located in a region that has a low rate of benign missense variation (Lek, 2016; Firth, 2009). The in silico prediction for this alteration is inconclusive. Based on the available evidence, this alteration is classified as pathogenic.
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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