ClinVar Miner

Submissions for variant NM_015267.4(CUX2):c.1768G>A (p.Glu590Lys) (rs1565909334)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV000709621 SCV000890027 likely pathogenic EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 2016-05-18 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000709621 SCV000930060 likely pathogenic EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 2019-02-27 criteria provided, single submitter curation This variant is interpreted as a Likely pathogenic for Epileptic encephalopathy, early infantile, 67, autosomal dominant. The following ACMG Tag(s) were applied: PM2 : Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PS4-Moderate : PS4 downgraded in strength to Moderate (Variant absent from controls and recurrent in multiple unrelated patients PMID:28628100,23020937,29630738,29795476). PP3 : Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PM6-Strong : PM6 upgraded in strength to Strong (Assumed de novo in multiple unrelated patients PMID:28628100,23020937,29630738,29795476).
OMIM RCV000709621 SCV000839537 pathogenic EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 2018-11-20 no assertion criteria provided literature only

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