ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.844G>C (p.Asp282His)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV002512505 SCV002822861 likely pathogenic Glycogen storage disease, type II 2023-01-13 criteria provided, single submitter clinical testing A Homozygous missense variation in exon 4 of the GAA gene that results in the amino acid substitution of Histidine for Aspartic acid at codon 282 was detected. The observed variant c.844G>C (p.Asp282His) has not been reported in the 1000 genomes and gnomAD databases. The in silico prediction of the variant are possibly damaging by MutPred, SIFT, PROVEAN and MutationTaster2. In summary, the variant meets our criteria to be classified as likely pathogenic.
Neuberg Centre For Genomic Medicine, NCGM RCV002512505 SCV005042931 pathogenic Glycogen storage disease, type II criteria provided, single submitter clinical testing The missense c.844G>C p.Asp282His variant in the GAA gene has not been reported previously in affected indvidual s as a pathogenic variant nor as a benign variant, to our knowledge. The variant is novel not in any individuals in gnomAD Exomes and 1000 Genomes. This variant has been reported to the ClinVar database as Likely Pathogenic. However, no details are available for independent assessment. The amino acid Aspartic acid at position 282 is changed to a Histidine changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted as damaging by SIFT. The amino acid change p.Asp282His in GAA is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. Further studies are required to prove the pathogenicity of the variant. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV002512505 SCV005058756 likely pathogenic Glycogen storage disease, type II 2023-12-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002512505 SCV005653189 likely pathogenic Glycogen storage disease, type II 2024-02-24 criteria provided, single submitter clinical testing

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.