ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.289A>G (p.Thr97Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002910052 SCV003265516 benign Lethal congenital glycogen storage disease of heart 2022-03-14 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004007696 SCV004834543 uncertain significance Hypertrophic cardiomyopathy 2024-03-05 criteria provided, single submitter clinical testing This missense variant replaces threonine with alanine at codon 97 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 2/250564 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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