ClinVar Miner

Submissions for variant NM_000320.3(QDPR):c.49G>A (p.Gly17Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV003985160 SCV004801462 likely pathogenic Dihydropteridine reductase deficiency 2020-04-28 criteria provided, single submitter clinical testing The QDPR c.49G>A p.(Gly17Ser) missense variant has not, to our knowledge, been reported in the peer-reviewed literature. This variant is not observed in version 2.1.1 of the Genome Aggregation Database. The p.Gly17Ser variant occurs in a hotspot region of the QDPR gene that includes several variants at the Gly17 residue, including one found in a compound heterozygous state with a null allele in an affected individual (Smooker et al. 1999; Al-Jasmi et al. 2015; Foroozani et al. 2015). Multiple lines of computational evidence suggest the variant may impact the gene or gene product. Based on the collective evidence the c.49G>A p.(Gly17Ser) variant is classified as likely pathogenic for BH4-deficient hyperphenylalaninemia.

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