ClinVar Miner

Submissions for variant NM_000151.4(G6PC):c.328G>A (p.Glu110Lys) (rs104894567)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000012785 SCV000789384 likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2017-02-15 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000012785 SCV001362494 pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2019-11-01 criteria provided, single submitter clinical testing Variant summary: G6PC c.328G>A (p.Glu110Lys) results in a conservative amino acid change located in the Phosphatidic acid phosphatase type 2/haloperoxidase domain (IPR000326) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 6.4e-05 in 251416 control chromosomes (gnomAD). This frequency is not higher than expected for a pathogenic variant in G6PC causing Glycogen Storage Disease Type Ia (6.4e-05 vs 0.0017), allowing no conclusion about variant significance. c.328G>A has been reported in the literature in multiple individuals affected with Glycogen Storage Disease Type Ia (Chevalier-Porst_1996, YangChou_1999, Trioche_2000, Beegle_2014). These data indicate that the variant is very likely to be associated with disease. Publications also reported that the variant results in less than 10% of normal glucose-6-phosphatase activity (Chevalier-Porst_1996, YangChou_1999, Shieh_2002). One ClinVar submitter (evaluation after 2014) cites the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
OMIM RCV000012785 SCV000033025 pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 1996-05-01 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.