ClinVar Miner

Submissions for variant NM_000320.3(QDPR):c.365C>A (p.Ala122Asp)

dbSNP: rs1553875105
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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 RCV000536037 SCV000631816 uncertain significance Dihydropteridine reductase deficiency 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces alanine with aspartic acid at codon 122 of the QDPR protein (p.Ala122Asp). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with QDPR-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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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