ClinVar Miner

Submissions for variant NM_001368809.2(AMPD2):c.818G>A (p.Arg273Gln)

gnomAD frequency: 0.00006  dbSNP: rs143736463
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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 RCV001987047 SCV002278828 uncertain significance Hereditary spastic paraplegia 63; Pontocerebellar hypoplasia type 9 2022-12-02 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 327 of the AMPD2 protein (p.Arg327Gln). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1494174). This variant has not been reported in the literature in individuals affected with AMPD2-related conditions. This variant is present in population databases (rs143736463, gnomAD 0.03%).

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