ClinVar Miner

Submissions for variant NM_000320.3(QDPR):c.344C>T (p.Ser115Leu) (rs1407920390)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557581 SCV000631815 pathogenic Dihydropteridine reductase deficiency 2016-08-24 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 115 of the QDPR protein (p.Ser115Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be homozygous in individuals affected with BH4 deficiency (PMID: 26006720). Enzymatic assays performed on patient's samples indicate that this missense change abrogates QDPR enzymatic activity (PMID: 26006720). For these reasons, this variant has been classified as Pathogenic.
Pathology and Clinical Laboratory Medicine,King Fahad Medical City RCV000557581 SCV001438941 likely pathogenic Dihydropteridine reductase deficiency criteria provided, single submitter clinical testing

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