Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001290247 | SCV001477290 | likely pathogenic | Landau-Kleffner syndrome | 2020-11-16 | criteria provided, single submitter | clinical testing | We identified the variant c.2077A>G, p.Asn693Asp in the gene GRIN2A in heterozygous state. The variant could not be detected in DNA from leukocytes of the patient’s parents, so we assume that it originated de novo. It is not yet described in the databases for disease-causing changes (HGMD, ClinVar, DECIPHER) and in the literature and is located in a mutational hot spot. The variant allele was not identified in control chromosomes (gnomAD). The in silico tools we use mostly assess the change as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic according to the ACMG classification system (Richards et al., 2015, PMID: 25741868). PS2_Moderate, PM1, PM2, PP3 |