ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.67A>C (p.Lys23Gln)

gnomAD frequency: 0.00001  dbSNP: rs780864954
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000694808 SCV000823270 benign Lethal congenital glycogen storage disease of heart 2024-05-14 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001191954 SCV001359896 uncertain significance Cardiomyopathy 2023-08-23 criteria provided, single submitter clinical testing This missense variant replaces lysine with glutamine at codon 23 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 5/247822 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.
CeGaT Center for Human Genetics Tuebingen RCV003432738 SCV004156989 uncertain significance not provided 2022-10-01 criteria provided, single submitter clinical testing PRKAG2: PM2
All of Us Research Program, National Institutes of Health RCV003999625 SCV004842340 uncertain significance Hypertrophic cardiomyopathy 2023-09-04 criteria provided, single submitter clinical testing This missense variant replaces lysine with glutamine at codon 23 of the PRKAG2 protein. Computational prediction tools and conservation analyses are inconclusive regarding the impact of this variant on the protein function. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 5/247822 chromosomes in the general population by the Genome Aggregation Database (gnomAD). 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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