ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.500C>T (p.Thr167Ile)

gnomAD frequency: 0.00001  dbSNP: rs766578540
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001346875 SCV001541110 uncertain significance Lethal congenital glycogen storage disease of heart 2020-08-16 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 167 of the PRKAG2 protein (p.Thr167Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs766578540, ExAC 0.006%). This variant has not been reported in the literature in individuals with PRKAG2-related conditions. 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.

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