ClinVar Miner

Submissions for variant NM_003359.4(UGDH):c.950G>A (p.Arg317Gln)

gnomAD frequency: 0.00006  dbSNP: rs775162839
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV001004657 SCV001426483 pathogenic Developmental and epileptic encephalopathy, 84 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001004657 SCV002021590 likely pathogenic Developmental and epileptic encephalopathy, 84 2021-02-05 criteria provided, single submitter clinical testing
3billion RCV001004657 SCV002058586 pathogenic Developmental and epileptic encephalopathy, 84 2022-01-03 criteria provided, single submitter clinical testing Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (PMID_32001716, ClinVar ID: VCV000592087, PMID:32175296, PS1_S). The variant has been reported to be in trans with a pathogenic variant as either compound heterozygous or homozygous in at least one similarly affected unrelated individual (PMID: 32001716, PM3_M). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.634, PP3_P). A missense variant is a common mechanism associated with Developmental and epileptic encephalopathy 84 (PP2_P). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000046, PM2_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000723274 SCV000854660 pathogenic Epileptic encephalopathy 2018-01-10 no assertion criteria provided clinical testing
Section for Clinical Neurogenetics, University of Tübingen RCV000723274 SCV001156119 likely pathogenic Epileptic encephalopathy 2019-10-01 no assertion criteria provided research
OMIM RCV001004657 SCV001164105 pathogenic Developmental and epileptic encephalopathy, 84 2020-10-07 no assertion criteria provided literature only

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