Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000232939 | SCV000290215 | uncertain significance | Lethal congenital glycogen storage disease of heart | 2023-11-02 | criteria provided, single submitter | clinical testing | This variant, c.699_701dup, results in the insertion of 1 amino acid(s) of the PRKAG2 protein (p.Ala234dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with PRKAG2-related conditions. ClinVar contains an entry for this variant (Variation ID: 241097). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |
Ambry Genetics | RCV003165645 | SCV003864600 | uncertain significance | Cardiovascular phenotype | 2022-11-28 | criteria provided, single submitter | clinical testing | The c.699_701dupGGC variant (also known as p.A234dup), located in coding exon 5 of the PRKAG2 gene, results from an in-frame duplication of GGC at nucleotide positions 699 to 701. This results in the duplication of an extra residue between codons 234 and 235. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |