ClinVar Miner

Submissions for variant NM_000320.3(QDPR):c.7G>A (p.Ala3Thr)

gnomAD frequency: 0.00006  dbSNP: rs769620717
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001889280 SCV002158210 uncertain significance Dihydropteridine reductase deficiency 2021-08-14 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 3 of the QDPR protein (p.Ala3Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs769620717, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with QDPR-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). 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 RCV004039116 SCV004935138 uncertain significance Inborn genetic diseases 2024-01-23 criteria provided, single submitter clinical testing The c.7G>A (p.A3T) alteration is located in exon 1 (coding exon 1) of the QDPR gene. This alteration results from a G to A substitution at nucleotide position 7, causing the alanine (A) at amino acid position 3 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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