ClinVar Miner

Submissions for variant NM_000320.3(QDPR):c.278del (p.Gly93fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002685617 SCV002988901 pathogenic Dihydropteridine reductase deficiency 2022-10-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with QDPR-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly93Alafs*14) in the QDPR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in QDPR are known to be pathogenic (PMID: 7627180, 11153907).
Fulgent Genetics, Fulgent Genetics RCV002685617 SCV005662074 likely pathogenic Dihydropteridine reductase deficiency 2024-06-11 criteria provided, single submitter clinical testing

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