ClinVar Miner

Submissions for variant NM_000320.3(QDPR):c.29C>T (p.Ala10Val)

gnomAD frequency: 0.00010  dbSNP: rs371735382
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000347923 SCV000340950 uncertain significance not provided 2016-04-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855185 SCV002135161 uncertain significance Dihydropteridine reductase deficiency 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 10 of the QDPR protein (p.Ala10Val). This variant is present in population databases (rs371735382, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with QDPR-related conditions. ClinVar contains an entry for this variant (Variation ID: 287243). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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.
Ambry Genetics RCV003165750 SCV003866637 uncertain significance Inborn genetic diseases 2023-02-13 criteria provided, single submitter clinical testing The c.29C>T (p.A10V) alteration is located in exon 1 (coding exon 1) of the QDPR gene. This alteration results from a C to T substitution at nucleotide position 29, causing the alanine (A) at amino acid position 10 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001855185 SCV004563565 uncertain significance Dihydropteridine reductase deficiency 2023-11-14 criteria provided, single submitter clinical testing Due to limited information, including a lack of clinical and/or functional data and an uninformative population frequency, the clinical significance of this variant is uncertain at this time.

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