ClinVar Miner

Submissions for variant NM_000320.3(QDPR):c.49G>C (p.Gly17Arg)

gnomAD frequency: 0.00003  dbSNP: rs757483045
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University RCV000761465 SCV000891569 pathogenic Dihydropteridine reductase deficiency 2024-06-12 criteria provided, single submitter curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000761465 SCV002500737 likely pathogenic Dihydropteridine reductase deficiency 2022-03-01 criteria provided, single submitter clinical testing Variant summary: QDPR c.49G>C (p.Gly17Arg) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8.5e-06 in 234150 control chromosomes (gnomAD). c.49G>C has been reported in the literature in homozygous individuals affected with Dihydropteridine Reductase Deficiency (Romstad_2000, Al-Jasmi_2016). DHPR enzyme activity in one of these individuals was determined to be considerably decreased (Romstad_2000). These data indicate that the variant is likely to be associated with disease. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as uncertain significance, without providing evidence for independent evaluation. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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