ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.2503G>A (p.Glu835Lys)

dbSNP: rs1234436850
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001327428 SCV001518503 uncertain significance Glycogen storage disease IXa1 2020-06-30 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 835 of the PHKA2 protein (p.Glu835Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. 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 with PHKA2-related conditions. This variant is not present in population databases (ExAC no frequency).

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