ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1599C>T (p.Cys533=) (rs142766716)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000242369 SCV000302665 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725491 SCV000337287 uncertain significance not provided 2015-11-04 criteria provided, single submitter clinical testing
Invitae RCV001088621 SCV000626521 likely benign Glycogen storage disease, type II 2020-11-11 criteria provided, single submitter clinical testing
GeneDx RCV000725491 SCV001805260 likely benign not provided 2021-04-13 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001088621 SCV001810616 likely benign Glycogen storage disease, type II 2021-07-22 criteria provided, single submitter clinical testing
Broad Institute Rare Disease Group, Broad Institute RCV001088621 SCV001422774 likely benign Glycogen storage disease, type II 2020-01-22 no assertion criteria provided curation The c.1599C>T (p.Cys533=) variant in GAA has not been previously reported in individuals with Glycogen Storage Disease II but has been reported as a VUS by EGL Genetic Diagnostics and a likely benign variant by Invitae and PreventionGenetics in ClinVar (Variation ID: 255354). This variant has been identified in 0.080% (20/24944) of African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs142766716). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a recessive carrier frequency. Computational prediction tools and conservation analyses suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. However, novel synonymous variants supported by computational evidence without raised suspicion for an impact are likely benign (Richards 2015). In summary, although additional studies are required to fully establish its clinical significance, this variant is likely benign. ACMG/AMP Criteria applied: PM2, BP4, BP7 (Richards 2015).

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.