ClinVar Miner

Submissions for variant NM_000320.3(QDPR):c.91C>T (p.Arg31Trp)

dbSNP: rs2108999046
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001864648 SCV002142691 uncertain significance Dihydropteridine reductase deficiency 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 31 of the QDPR protein (p.Arg31Trp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with biopterin-deficient hyperphenylalaninemia (PMID: 33822819). ClinVar contains an entry for this variant (Variation ID: 1371817). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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