ClinVar Miner

Submissions for variant NM_003359.4(UGDH):c.193C>T (p.Arg65Ter)

gnomAD frequency: 0.00012  dbSNP: rs200059198
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV001004655 SCV002768046 pathogenic Developmental and epileptic encephalopathy, 84 2021-05-06 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with developmental and epileptic encephalopathy 84 (MIM#618792). (I) 0106 - This gene is associated with autosomal recessive disease. (I) 0201 - Variant is predicted to cause nonsense-mediated decay (NMD) and loss of protein (premature termination codon is located at least 54 nucleotides upstream of the final exon-exon junction). (SP) 0251 - This variant is heterozygous. (I) 0304 - Variant is present in gnomAD (v2) <0.01 for a recessive condition (18 heterozygotes, 0 homozygotes). (SP) 0703 - Two other NMD predicted variants comparable to the one identified in this case have moderate previous evidence for pathogenicity (ClinVar, PMID: 32001716). (SP) 0803 - This variant has limited previous evidence of pathogenicity in two unrelated individuals with developmental epileptic encephalopathy (PMID: 32001716). (SP) 0905 - No published segregation evidence has been identified for this variant. (I) 1001 - This variant has strong functional evidence supporting abnormal protein function. Patient derived fibroblast cells with p.R65*/p.Y367C showed dramatically reduced endogenous protein level. Cerebral organoid developed in vitro with the same genotype showed smaller and rougher edges compared to WT (PMID: 32001716). (SP) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign
Section for Clinical Neurogenetics, University of Tübingen RCV000999489 SCV001156130 likely pathogenic Epileptic encephalopathy 2019-10-01 no assertion criteria provided research
OMIM RCV001004655 SCV001164103 pathogenic Developmental and epileptic encephalopathy, 84 2020-10-07 no assertion criteria provided literature only

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