ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1232G>A (p.Arg411Gln)

gnomAD frequency: 0.00018  dbSNP: rs372799904
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000814062 SCV000954458 likely benign Glycogen storage disease, type II 2025-01-21 criteria provided, single submitter clinical testing
GeneDx RCV002259372 SCV002538883 uncertain significance not provided 2024-05-06 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 19343043, 22253258)
Fulgent Genetics, Fulgent Genetics RCV000814062 SCV002793739 uncertain significance Glycogen storage disease, type II 2021-07-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002259372 SCV003834104 uncertain significance not provided 2021-05-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000814062 SCV001455607 uncertain significance Glycogen storage disease, type II 2020-09-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003938174 SCV004763840 uncertain significance GAA-related disorder 2024-02-07 no assertion criteria provided clinical testing The GAA c.1232G>A variant is predicted to result in the amino acid substitution p.Arg411Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.049% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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