ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.547-67C>G

gnomAD frequency: 0.65691  dbSNP: rs8069491
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001249077 SCV001423030 benign Glycogen storage disease, type II 2020-01-22 criteria provided, single submitter curation The c.547-67C>G variant in GAA has been reported in at least five individuals with suspected glycogen storage disease II (PMID: 25681614, 30595407), but has been identified in 76.2% (2644/3740) of European (Finnish) chromosomes, 74% (11379/15370) of European (non-Finnish) chromosomes, and 51.3% (4643/8672) of African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs8069491). This variant has been seen in the general population at a frequency high enough to rule out a pathogenic role. Computational prediction tools, including splice predictors, and conservation analyses suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. This variant was reported in the homozygous state in an individual suspected to be affected (PMID: 30595407). In summary, this variant meets criteria to be classified as benign for glycogen storage disease II in an autosomal recessive manner based on its high frequency in the general population. ACMG/AMP Criteria applied: BA1, BP7, BP4 (Richards 2015).
Invitae RCV001249077 SCV001725515 benign Glycogen storage disease, type II 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001597259 SCV001831358 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30595407)

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