ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.851C>G (p.Ala284Gly)

gnomAD frequency: 0.00010  dbSNP: rs147569830
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000550169 SCV000626644 uncertain significance Glycogen storage disease, type II 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 284 of the GAA protein (p.Ala284Gly). This variant is present in population databases (rs147569830, gnomAD 0.03%). This missense change has been observed in individual(s) with a positive newborn screening result for GAA-related disease (Invitae). ClinVar contains an entry for this variant (Variation ID: 456440). 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.
Eurofins Ntd Llc (ga) RCV000732024 SCV000859900 uncertain significance not provided 2018-02-26 criteria provided, single submitter clinical testing
GeneDx RCV000732024 SCV001803902 uncertain significance not provided 2023-10-17 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 22253258, 19343043)
Genome-Nilou Lab RCV000550169 SCV002027241 uncertain significance Glycogen storage disease, type II 2021-09-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000550169 SCV002813406 uncertain significance Glycogen storage disease, type II 2021-10-14 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000732024 SCV003828446 uncertain significance not provided 2023-03-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV000550169 SCV001453418 uncertain significance Glycogen storage disease, type II 2020-01-24 no assertion criteria provided clinical testing

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