ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.568C>A (p.Arg190Ser)

dbSNP: rs202200501
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000466658 SCV000551581 uncertain significance Lethal congenital glycogen storage disease of heart 2016-07-10 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a PRKAG2-related disease. This sequence change replaces arginine with serine at codon 190 of the PRKAG2 protein (p.Arg190Ser). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and serine.

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