ClinVar Miner

Submissions for variant NM_000320.3(QDPR):c.240G>A (p.Val80=)

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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 RCV003061905 SCV003346409 uncertain significance Dihydropteridine reductase deficiency 2022-04-28 criteria provided, single submitter clinical testing 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 affects codon 80 of the QDPR mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the QDPR protein. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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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