ClinVar Miner

Submissions for variant NM_000320.3(QDPR):c.344C>T (p.Ser115Leu)

gnomAD frequency: 0.00001  dbSNP: rs1407920390
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000557581 SCV000631815 pathogenic Dihydropteridine reductase deficiency 2023-09-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 459896). This missense change has been observed in individual(s) with BH4 deficiency (PMID: 26006720). This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 115 of the QDPR protein (p.Ser115Leu).
Pathology and Clinical Laboratory Medicine, King Fahad Medical City RCV000557581 SCV001438941 likely pathogenic Dihydropteridine reductase deficiency criteria provided, single submitter clinical testing
GeneDx RCV003322781 SCV004028371 likely pathogenic not provided 2023-02-21 criteria provided, single submitter clinical testing Observed with a second QDPR variant in a patient with BH4-deficient hyperphenylalaninemia in published literature, but it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes (Gundorova et al., 2021); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33152132, 27527004, 33903016, 26006720, 27246466, 33822819)
Fulgent Genetics, Fulgent Genetics RCV000557581 SCV005662073 likely pathogenic Dihydropteridine reductase deficiency 2024-03-16 criteria provided, single submitter clinical testing

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