ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.181C>T (p.Arg61Ter)

gnomAD frequency: 0.00002  dbSNP: rs770100112
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001187235 SCV001353969 uncertain significance Cardiomyopathy 2023-03-29 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 2 of the PRKAG2 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with PRKAG2-related disorders in the literature. This variant has been identified in 4/246818 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Clinical relevance of loss-of-function PRKAG2 truncation variants in autosomal dominant cardiovascular disorders is not clearly established. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001301855 SCV001491038 uncertain significance Lethal congenital glycogen storage disease of heart 2022-08-09 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. ClinVar contains an entry for this variant (Variation ID: 925356). This variant has not been reported in the literature in individuals affected with PRKAG2-related conditions. This variant is present in population databases (rs770100112, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Arg61*) in the PRKAG2 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in PRKAG2 cause disease.
All of Us Research Program, National Institutes of Health RCV004008683 SCV004842327 uncertain significance Hypertrophic cardiomyopathy 2023-04-10 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 2 of the PRKAG2 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. 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 4/246818 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Clinical significance of loss-of-function truncation variants in the PRKAG2 gene is not clearly established. 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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