ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.443G>A (p.Arg148Lys)

dbSNP: rs542885983
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000877321 SCV001020041 likely benign Glycogen storage disease type III 2024-10-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV005231930 SCV005878472 uncertain significance not provided 2023-12-21 criteria provided, single submitter clinical testing The AGL c.443G>A; p.Arg148Lys variant (rs542885983), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 706640). This variant is found in the South Asian population with an allele frequency of 0.2% (74/30616 alleles) in the Genome Aggregation Database (v2.1.1). Computational analyses predict that this variant is neutral (REVEL: 0.139). Due to limited information, the clinical significance of this variant is uncertain at this time.
Natera, Inc. RCV000877321 SCV001452903 uncertain significance Glycogen storage disease type III 2020-01-17 no assertion criteria provided 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.