ClinVar Miner

Submissions for variant NM_000320.3(QDPR):c.271G>A (p.Ala91Thr)

dbSNP: rs147257284
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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 RCV001889170 SCV002148813 uncertain significance Dihydropteridine reductase deficiency 2020-12-22 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. This variant is present in population databases (rs147257284, ExAC 0.001%). This sequence change replaces alanine with threonine at codon 91 of the QDPR protein (p.Ala91Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine.

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