ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.968T>G (p.Phe323Cys)

dbSNP: rs730880977
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159007 SCV000208948 uncertain significance not provided 2024-09-02 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001850233 SCV002192984 uncertain significance Lethal congenital glycogen storage disease of heart 2021-06-02 criteria provided, single submitter clinical testing 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. 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 expected to disrupt PRKAG2 protein function. This variant has not been reported in the literature in individuals with PRKAG2-related conditions. ClinVar contains an entry for this variant (Variation ID: 181476). This variant is not present in population databases (ExAC no frequency). This sequence change replaces phenylalanine with cysteine at codon 323 of the PRKAG2 protein (p.Phe323Cys). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and cysteine.

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