ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1147A>G (p.Ile383Val)

gnomAD frequency: 0.00002  dbSNP: rs794727837
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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) RCV000179719 SCV000232011 uncertain significance not provided 2015-05-19 criteria provided, single submitter clinical testing
Invitae RCV000557680 SCV000626496 uncertain significance Glycogen storage disease, type II 2022-05-14 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 383 of the GAA protein (p.Ile383Val). This variant is present in population databases (rs794727837, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with GAA-related conditions. ClinVar contains an entry for this variant (Variation ID: 198392). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt GAA protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV000179719 SCV001820461 uncertain significance not provided 2020-10-13 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000557680 SCV002027254 uncertain significance Glycogen storage disease, type II 2021-09-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000557680 SCV002775943 uncertain significance Glycogen storage disease, type II 2021-07-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV000557680 SCV002091994 uncertain significance Glycogen storage disease, type II 2020-08-12 no assertion criteria provided clinical testing

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