ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.271G>A (p.Asp91Asn) (rs1800299)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078177 SCV000110015 other not provided 2017-12-14 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000117106 SCV000302684 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000531082 SCV000626594 other Glycogen storage disease, type II 2019-01-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000531082 SCV001159130 benign Glycogen storage disease, type II 2018-07-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000531082 SCV001287673 likely benign Glycogen storage disease, type II 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
OMIM RCV000004235 SCV000024401 benign Acid alpha-glucosidase, allele 2 2012-10-28 no assertion criteria provided literature only
Genetic Services Laboratory, University of Chicago RCV000117106 SCV000151258 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Stanford Center for Inherited Cardiovascular Disease, Stanford University RCV000078177 SCV000925080 benign not provided 2017-06-02 no assertion criteria provided provider interpretation The GAA gene is associated with Pompe disease; however, this variant is not associated with disease. It is known to interfere with assays for GAA enzyme activity and is therefore called a "pseudodeficiency allele". Even individuals with two copies of this variant do not have Pompe disease.

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