ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2561G>A (p.Arg854Gln) (rs149968110)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000275982 SCV000339549 likely benign not specified 2018-03-23 criteria provided, single submitter clinical testing
Invitae RCV001085439 SCV000626583 likely benign Glycogen storage disease, type II 2020-12-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586838 SCV000695655 uncertain significance not provided 2016-01-14 criteria provided, single submitter clinical testing Variant summary: GAA c.2561G>A affects a non-conserved nucleotide, resulting in amino acid change from Arg to Gln. 4/4 in-silico tools predict benign outcome for this variant (SNPs&GO not captured due to low reliability index). This variant is found in 32/116434 control chromosomes at a frequency of 0.0002748, which does not significantly exceed maximal expected frequency of a pathogenic GAA allele (0.0042205). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available.
GeneDx RCV000586838 SCV000779729 uncertain significance not provided 2021-08-02 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 32049654)
Illumina Clinical Services Laboratory,Illumina RCV001085439 SCV001285666 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.
Nilou-Genome Lab RCV001085439 SCV001810197 uncertain significance Glycogen storage disease, type II 2021-07-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001085439 SCV001455443 likely benign Glycogen storage disease, type II 2020-06-18 no assertion criteria provided clinical testing

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