ClinVar Miner

Submissions for variant NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) (rs1555408401)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000585789 SCV000693433 likely pathogenic Intellectual disability 2016-08-05 criteria provided, single submitter research
Fulgent Genetics,Fulgent Genetics RCV000677126 SCV000893337 pathogenic Developmental and epileptic encephalopathy, 66 2018-10-31 criteria provided, single submitter clinical testing
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV000782018 SCV000920482 pathogenic not provided 2019-08-06 criteria provided, single submitter clinical testing
Mendelics RCV000677126 SCV001139524 pathogenic Developmental and epileptic encephalopathy, 66 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000782018 SCV001248885 pathogenic not provided 2020-07-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001265915 SCV001444087 pathogenic Inborn genetic diseases 2018-04-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV000677126 SCV001521920 pathogenic Developmental and epileptic encephalopathy, 66 2019-09-27 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000677126 SCV001554485 likely pathogenic Developmental and epileptic encephalopathy, 66 criteria provided, single submitter clinical testing
Invitae RCV000782018 SCV001575671 likely pathogenic not provided 2018-04-29 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 209 of the PACS2 protein (p.Glu209Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with early onset epilepsy, global developmental delay with variable autistic features, facial dysmorphism, and cerebellar dysgenesis (PMID: 29656858). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli RCV001420210 SCV001622630 pathogenic See cases 2021-04-26 criteria provided, single submitter clinical testing PP5_very strong;PM2_supporting;PP2_supporting
OMIM RCV000677126 SCV000803196 pathogenic Developmental and epileptic encephalopathy, 66 2020-11-24 no assertion criteria provided literature only
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000677126 SCV000925830 pathogenic Developmental and epileptic encephalopathy, 66 2018-12-12 no assertion criteria provided clinical testing
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University RCV000677126 SCV001434001 likely pathogenic Developmental and epileptic encephalopathy, 66 2020-07-07 no assertion criteria provided clinical testing

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