ClinVar Miner

Submissions for variant NM_000294.3(PHKG2):c.229G>A (p.Glu77Lys)

dbSNP: rs2053339231
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Human Genetics RCV001293804 SCV001482511 pathogenic Glycogen storage disease IXc 2020-08-27 criteria provided, single submitter clinical testing disease causing
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001293804 SCV002053745 likely pathogenic Glycogen storage disease IXc criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV001293804 SCV004048402 uncertain significance Glycogen storage disease IXc criteria provided, single submitter clinical testing The missense c.229G>A(p.Glu77Lys) variant in PHKG2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Asn541Asp variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Glu at position 77 is changed to a Lys changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted to be damaging by both SIFT and PolyPhen2. The residue is conserved across species. The amino acid change p.Glu77Lys in PHKG2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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