ClinVar Miner

Submissions for variant NM_000294.3(PHKG2):c.469G>A (p.Glu157Lys) (rs752961445)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000761513 SCV001225250 uncertain significance Glycogen storage disease IXc 2020-07-25 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 157 of the PHKG2 protein (p.Glu157Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs752961445, ExAC 0.01%). This variant has been observed in an individual affected with glycogen storage disease type IXc (GSDIXc) (PMID: 12930917, 25266922). ClinVar contains an entry for this variant (Variation ID: 623365). 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: Possibly Damaging; 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.
Department of Genetics,Sultan Qaboos University Hospital, Oman RCV000761513 SCV000891642 likely pathogenic Glycogen storage disease IXc 2017-12-30 no assertion criteria provided curation

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