Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000116222 | SCV000150134 | likely pathogenic | Baraitser-Winter syndrome 1 | 2013-07-02 | criteria provided, single submitter | clinical testing | |
Gene |
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 - |
RCV000116222 | SCV001426625 | likely pathogenic | Baraitser-Winter syndrome 1 | criteria provided, single submitter | clinical testing | ||
Institute Of Human Genetics Munich, |
RCV000116222 | SCV001429963 | pathogenic | Baraitser-Winter syndrome 1 | 2020-06-19 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
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 | |
Ce |
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, |
RCV000116222 | SCV000148646 | pathogenic | Baraitser-Winter syndrome 1 | 2014-04-15 | no assertion criteria provided | clinical testing |