ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2332-10C>G

gnomAD frequency: 0.00026  dbSNP: rs373606162
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000325242 SCV000339693 uncertain significance not provided 2018-07-02 criteria provided, single submitter clinical testing
Invitae RCV001084656 SCV000626564 likely benign Glycogen storage disease, type II 2024-01-26 criteria provided, single submitter clinical testing
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001084656 SCV001422891 likely benign Glycogen storage disease, type II 2020-01-22 criteria provided, single submitter curation The c.2332-10C>G variant in GAA has not been previously reported in individuals with Glycogen Storage Disease II but has been reported as a VUS by EGL Genetic Diagnostics and as a likely benign variant by Invitae in ClinVar (Variation ID: 286317). This variant has been identified in 0.121% (30/24786) of African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs373606162). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. 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. However, novel synonymous variants supported by computational evidence without raised suspicion for an impact are likely benign (Richards 2015). In summary, although additional studies are required to fully establish its clinical significance, this variant is likely benign. ACMG/AMP Criteria applied: BP4, BP7 (Richards 2015).
Mayo Clinic Laboratories, Mayo Clinic RCV000325242 SCV001713745 uncertain significance not provided 2020-09-17 criteria provided, single submitter clinical testing
GeneDx RCV000325242 SCV001782699 likely benign not provided 2018-10-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001084656 SCV001455436 uncertain significance Glycogen storage disease, type II 2020-01-17 no assertion criteria provided clinical testing

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