Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001060511 | SCV001225204 | pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2019-02-18 | criteria provided, single submitter | clinical testing | This variant has been observed to segregate with glycogen storage disease  in families (PMID: 10874313, 16435186). For these reasons, this variant has been classified as Pathogenic. This variant has been reported to affect G6PC protein function (PMID: 11739393). This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with asparagine at codon 76 of the G6PC protein (p.Lys76Asn). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and asparagine. |
Institute of Medical Genetics and Applied Genomics, |
RCV001268621 | SCV001447673 | pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001060511 | SCV002093295 | pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2017-03-17 | no assertion criteria provided | clinical testing |