ClinVar Miner

Submissions for variant NM_000320.3(QDPR):c.53del (p.Gly18fs)

dbSNP: rs2108999089
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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 RCV001943371 SCV002182304 pathogenic Dihydropteridine reductase deficiency 2022-08-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1413141). 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 creates a premature translational stop signal (p.Gly18Alafs*39) in the QDPR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in QDPR are known to be pathogenic (PMID: 7627180, 11153907).

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