ClinVar Miner

Submissions for variant NM_000320.3(QDPR):c.614T>G (p.Leu205Ter)

dbSNP: rs1362475419
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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 RCV001975076 SCV002244469 pathogenic Dihydropteridine reductase deficiency 2023-09-10 criteria provided, single submitter clinical testing This variant disrupts a region of the QDPR protein in which other variant(s) (p.Arg221*) have been determined to be pathogenic (PMID: 8518287, 19099731, 27246466, 30109838). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 1458840). This premature translational stop signal has been observed in individual(s) with dihydropteridine reductase deficiency (PMID: 8518287). This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Leu205*) in the QDPR gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 40 amino acid(s) of the QDPR protein. For these reasons, this variant has been classified as Pathogenic.

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