ClinVar Miner

Submissions for variant NM_000110.4(DPYD):c.2650G>T (p.Glu884Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV002471719 SCV002769213 pathogenic Dihydropyrimidine dehydrogenase deficiency 2020-06-11 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.1.1, this variant is classified as pathogenic. Following criteria are met: 0102 - Loss-of-function is a known mechanism of disease for this gene. (N) 0106 - This gene is known to be associated with autosomal recessive disease. This gene causes a clinically heterogenous autosomal recessive disorder showing wide variablity of clinical presentations, ranging from no symptoms to severe convulsive disorders with motor and mental retardation (PMID: 29152729). (N) 0112 - Variants in this gene are known to have reduced penetrance (OMIM). Individuals with homozygous NMD predicted variants may also be unaffected (PMID: 9254861). (N) 0201 - Variant is predicted to cause nonsense-mediated decay (NMD) and loss of protein (exon 21 of 23). (P) 0251 - Variant is heterozygous. (N) 0301 - Variant is absent from gnomAD. (P) 0701 - Comparable variants also predicted to result in NMD, have very strong previous evidence for pathogenicity (Decipher, ClinVar). (P) 0807 - Variant has not previously been reported in a clinical context. (N) 0905 - No segregation evidence has been identified for this variant. (N) 1007 - No published functional evidence has been identified for this variant. (N) 1208 - Inheritance information for this variant is not currently available. (N) Legend: (P) - Pathogenic, (N) - Neutral, (B) - Benign

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