ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.1153A>G (p.Lys385Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003340950 SCV004047835 uncertain significance Glycogen storage disease IXa1 criteria provided, single submitter clinical testing The missense variant in c.1153A>G(p.Lys385Glu) in PHKA2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Lys385Glu variant is novel (not in any individuals) in gnomAD and 1000 Genomes. This variant has not been reported to the ClinVar database. The amino acid change p.Lys385Glu in PHKA2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Lys at position 385 is changed to a Glu changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Uncertain Significance (VUS).

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