Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001989354 | SCV002285470 | uncertain significance | Lethal congenital glycogen storage disease of heart | 2022-10-18 | criteria provided, single submitter | clinical testing | This variant, c.1051_1051+2dup, results in the insertion of 1 amino acid(s) of the PRKAG2 protein (p.Arg350_Glu351insGly), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PRKAG2-related conditions. This variant is also known as Splice site. ClinVar contains an entry for this variant (Variation ID: 1494455). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. |
| Gene |
RCV003332370 | SCV004039810 | uncertain significance | not provided | 2023-03-28 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge |