ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1265G>A (p.Arg422Gln)

gnomAD frequency: 0.00008  dbSNP: rs2229224
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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) RCV000349846 SCV000336788 uncertain significance not provided 2015-10-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001080632 SCV000626499 likely benign Glycogen storage disease, type II 2024-01-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001080632 SCV001281354 uncertain significance Glycogen storage disease, type II 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001080632 SCV001423077 uncertain significance Glycogen storage disease, type II 2020-01-22 criteria provided, single submitter curation The c.1265G>A variant in GAA has not been previously reported in the literature in individuals with Glycogen Storage Disease II but has been reported as a VUS by EGL and a likely benign variant by Invitae in ClinVar (Variation ID: 284246). This variant has been identified in 0.335% (65/19404) of East Asian chromosomes, 0.007% (2/29876) of South Asian chromosomes, and 0.004% (1/23700) of African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs2229224). 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. One additional variant at the the same position, p.Arg422Trp, has been reported a VUS by EGL and likely benign by Invitae in ClinVar (Variation ID: 456371). In summary, while the clinical significance of the c.1265G>A variant is uncertain, these data suggest that it is more likely to be benign. ACMG/AMP Criteria applied: BP4 (Richards 2015).
Genome-Nilou Lab RCV001080632 SCV001810597 uncertain significance Glycogen storage disease, type II 2021-07-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001080632 SCV002092004 likely benign Glycogen storage disease, type II 2020-02-24 no assertion criteria provided clinical testing

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