ClinVar Miner

Submissions for variant NM_003359.4(UGDH):c.41A>G (p.Tyr14Cys)

gnomAD frequency: 0.00001  dbSNP: rs369608407
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Section for Clinical Neurogenetics, University of Tübingen RCV000999493 SCV001156134 likely pathogenic Epileptic encephalopathy 2019-10-01 no assertion criteria provided research
OMIM RCV001004652 SCV001164100 pathogenic Developmental and epileptic encephalopathy, 84 2020-10-07 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV004758135 SCV005363022 uncertain significance UGDH-related disorder 2024-05-05 no assertion criteria provided clinical testing The UGDH c.41A>G variant is predicted to result in the amino acid substitution p.Tyr14Cys. This variant was reported in the compound heterozygous state in an individual with developmental epileptic encephalopathy (Hengel et al 2020. PubMed ID: 32001716). This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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