ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.1184C>T (p.Ala395Val)

dbSNP: rs1806859703
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001179460 SCV001344121 uncertain significance Cardiomyopathy 2023-12-05 criteria provided, single submitter clinical testing This missense variant replaces alanine with valine at codon 395 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 not been identified 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001875936 SCV002211182 uncertain significance Lethal congenital glycogen storage disease of heart 2021-06-28 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PRKAG2 protein function. This variant has not been reported in the literature in individuals with PRKAG2-related conditions. ClinVar contains an entry for this variant (Variation ID: 920610). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 395 of the PRKAG2 protein (p.Ala395Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine.

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