ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.934del (p.Leu312fs)

dbSNP: rs886042358
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel RCV001265225 SCV001443310 pathogenic Glycogen storage disease, type II 2023-06-27 reviewed by expert panel curation The NM_000152.5:c.934del (p.Leu312CysfsTer2) variant in GAA is a frameshift variant that is predicted to cause a premature stop codon in exon 5, leading to nonsense mediated decay in a gene in which loss-of-function is an established disease mechanism (PVS1). One patient with this variant and deficient GAA activity in dried blood spots has been reported (clinical laboratory data) (PP4_Moderate). This individual is compound heterozygous for the variant and c.1219T>C (p.Tyr407His). The allelic data from this patient will be used in the assessment of p.Tyr407His and is not included here to avoid circular logic. The variant is not in gnomAD v2.1.1 (PM2_Supporting). There is a ClinVar entry for this variant (Variation ID: 282254). In summary, this variant meets the criteria to be classified as pathogenic for Pompe disease. ACMG/AMP GAA-specific criteria applied, as specified by the ClinGen Lysosomal Diseases VCEP (Specifications Version 2.0): PVS1, PP4_Moderate, PM2_Supporting. (Classification approved by the ClinGen Lysosomal Diseases VCEP, June 27, 2023)
Eurofins Ntd Llc (ga) RCV000308477 SCV000333613 pathogenic not provided 2015-08-07 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.