ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.917C>T (p.Ser306Leu) (rs138097673)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000178719 SCV000230858 benign not specified 2014-05-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000178719 SCV000247444 uncertain significance not specified 2014-04-29 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000178719 SCV000302702 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001704853 SCV000521135 likely benign not provided 2021-03-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22252923)
Invitae RCV000545994 SCV000626655 benign Glycogen storage disease, type II 2020-12-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000545994 SCV001285462 uncertain significance Glycogen storage disease, type II 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Nilou-Genome Lab RCV000545994 SCV001810518 likely benign Glycogen storage disease, type II 2021-07-22 criteria provided, single submitter clinical testing
Broad Institute Rare Disease Group, Broad Institute RCV000545994 SCV001422935 likely benign Glycogen storage disease, type II 2020-01-22 no assertion criteria provided curation The heterozygous p.Ser306Leu variant in GAA has been reported in 1 African American individual with Glycogen Storage Disease II (PMID: 22252923) and has been identified in 0.9373% (228/24326) of African chromosomes, including 2 homozygotes, by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs138097673). This variant has been seen in the general population at a greater frequency than expected for Glycogen Storage Disease II and is consistent with a benign role. This variant has also been reported as a benign variant (by Invitae and EGL), likely benign variant (by GeneDx and PreventionGenetics), and VUS (by University of Chicago) in ClinVar (Variation ID: 197633). 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. In summary, although additional studies are required to fully establish its clinical significance, this variant is likely benign. ACMG/AMP Criteria applied: BS1, BP4 (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.