ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2109C>T (p.Tyr703=) (rs150728610)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726677 SCV000345935 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV001082960 SCV000626544 likely benign Glycogen storage disease, type II 2020-12-04 criteria provided, single submitter clinical testing
GeneDx RCV000726677 SCV000714878 likely benign not provided 2019-10-22 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001082960 SCV001810643 likely benign Glycogen storage disease, type II 2021-07-22 criteria provided, single submitter clinical testing
Broad Institute Rare Disease Group, Broad Institute RCV001082960 SCV001422615 likely benign Glycogen storage disease, type II 2020-01-22 no assertion criteria provided curation The c.2109C>T (p.Tyr703=) 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 a likely benign variant by GeneDx and Invitae in ClinVar (Variation ID: 291223). This variant has been identified in 0.094% (21/22256) of African chromosomes by the Genome Aggregation Database (gnomAD,; dbSNP rs150728610). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a recessive carrier frequency. 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: PM2, BP4, BP7 (Richards 2015).
Natera, Inc. RCV001082960 SCV001455430 uncertain significance Glycogen storage disease, type II 2020-01-24 no assertion criteria provided clinical testing

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