ClinVar Miner

Submissions for variant NM_022098.4(XPNPEP3):c.926G>A (p.Arg309Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294723 SCV002587733 uncertain significance Kidney disorder 2021-05-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003097864 SCV003477251 uncertain significance Nephronophthisis-like nephropathy 1 2022-06-08 criteria provided, single submitter clinical testing 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. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with XPNPEP3-related conditions. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 309 of the XPNPEP3 protein (p.Arg309Gln). This variant is present in population databases (rs773473817, gnomAD 0.004%).

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