ClinVar Miner

Submissions for variant NM_000294.3(PHKG2):c.227G>A (p.Arg76Gln)

gnomAD frequency: 0.00004  dbSNP: rs138299462
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000801920 SCV000941723 uncertain significance Glycogen storage disease IXc 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 76 of the PHKG2 protein (p.Arg76Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs138299462, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with PHKG2-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: "Deleterious"; PolyPhen-2: "Benign"; 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.
Fulgent Genetics, Fulgent Genetics RCV000801920 SCV002793484 uncertain significance Glycogen storage disease IXc 2021-11-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002534691 SCV003688975 uncertain significance Inborn genetic diseases 2022-12-05 criteria provided, single submitter clinical testing The c.227G>A (p.R76Q) alteration is located in exon 3 (coding exon 2) of the PHKG2 gene. This alteration results from a G to A substitution at nucleotide position 227, causing the arginine (R) at amino acid position 76 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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