ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.562G>C (p.Glu188Gln)

dbSNP: rs772303730
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001313339 SCV001503831 uncertain significance Lethal congenital glycogen storage disease of heart 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glutamine at codon 188 of the PRKAG2 protein (p.Glu188Gln). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and glutamine. This variant is present in population databases (rs772303730, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with PRKAG2-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PRKAG2 protein function. 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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