Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002599739 | SCV003501294 | uncertain significance | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2021-09-17 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine with arginine at codon 355 of the G6PC protein (p.Lys355Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs777825445, ExAC 0.02%). This variant has not been reported in the literature in individuals with G6PC-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 | RCV004621727 | SCV005118075 | uncertain significance | not specified | 2024-05-16 | criteria provided, single submitter | clinical testing | The c.1064A>G (p.K355R) alteration is located in exon 5 (coding exon 5) of the G6PC gene. This alteration results from a A to G substitution at nucleotide position 1064, causing the lysine (K) at amino acid position 355 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |