ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.635C>T (p.Pro212Leu)

gnomAD frequency: 0.00002  dbSNP: rs749753053
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001954752 SCV002204951 likely benign Lethal congenital glycogen storage disease of heart 2024-08-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002361248 SCV002658031 uncertain significance Cardiovascular phenotype 2024-11-10 criteria provided, single submitter clinical testing The p.P212L variant (also known as c.635C>T), located in coding exon 4 of the PRKAG2 gene, results from a C to T substitution at nucleotide position 635. The proline at codon 212 is replaced by leucine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004010898 SCV004831571 uncertain significance Hypertrophic cardiomyopathy 2023-12-01 criteria provided, single submitter clinical testing This missense variant replaces proline with leucine at codon 212 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 2/251316 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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