ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.640A>G (p.Arg214Gly)

gnomAD frequency: 0.00001  dbSNP: rs730880987
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001320344 SCV001511126 likely benign Lethal congenital glycogen storage disease of heart 2023-11-27 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001804880 SCV002052331 uncertain significance Cardiomyopathy 2023-04-25 criteria provided, single submitter clinical testing This missense variant replaces arginine with glycine at codon 214 of the PRKAG2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with PRKAG2-related disorders in the literature. This variant has been identified in 2/251276 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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