ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.250G>A (p.Val84Ile)

gnomAD frequency: 0.00019  dbSNP: rs139595011
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000695540 SCV000824047 likely benign Glycogen storage disease, type II 2024-01-31 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000731464 SCV000859285 uncertain significance not provided 2018-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000731464 SCV001793186 uncertain significance not provided 2022-12-12 criteria provided, single submitter clinical testing In silico analysis supports 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: 22253258)
Genome-Nilou Lab RCV000695540 SCV001810196 uncertain significance Glycogen storage disease, type II 2021-07-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000695540 SCV002038535 uncertain significance Glycogen storage disease, type II 2021-05-13 criteria provided, single submitter clinical testing The GAA c.250G>A (p.Val84Ile) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is reported at a frequency of 0.000408 in the African/African American population of the Genome Aggregation Database (version 2.1.1). Multiple computational analyses predict this variant to have no impact on the gene or gene product, though these predictions have not been experimentally confirmed. Based on the limited evidence, the p.Val84Ile variant is classified as a variant of uncertain significance for glycogen storage disease type II.

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