ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.32G>A (p.Arg11Gln)

gnomAD frequency: 0.00026  dbSNP: rs138812846
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250396 SCV000302687 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000724696 SCV000331867 uncertain significance not provided 2015-10-07 criteria provided, single submitter clinical testing
Invitae RCV000525907 SCV000626605 likely benign Glycogen storage disease, type II 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000724696 SCV000716344 likely benign not provided 2020-09-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 18425781, 31301153)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000250396 SCV000919371 uncertain significance not specified 2018-05-25 criteria provided, single submitter clinical testing Variant summary: GAA c.32G>A (p.Arg11Gln) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00014 in 275638 control chromosomes (gnomAD). This frequency is not significantly higher than expected for a pathogenic variant in GAA causing Glycogen Storage Disease, Type 2 (Pompe Disease) (0.00014 vs 0.0042), allowing no conclusion about variant significance. The variant, c.32G>A, has been reported in the literature in individuals affected with Glycogen Storage Disease, Type 2 (Pompe Disease)(Kroos_2008) but was classified as not pathogenic by the authors. These report(s) do not provide unequivocal conclusions about association of the variant with Glycogen Storage Disease, Type 2 (Pompe Disease). At least one publication reports experimental evidence evaluating an impact on protein function. These results showed no damaging effect of this variant (Kroos_2008). Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation (likely benign x1, uncertain significance 2x). Based on the evidence outlined above, the variant was classified as uncertain significance.
Genome-Nilou Lab RCV000525907 SCV001810613 uncertain significance Glycogen storage disease, type II 2021-07-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000724696 SCV003828513 uncertain significance not provided 2023-09-07 criteria provided, single submitter clinical testing

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