ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2423C>T (p.Pro808Leu)

gnomAD frequency: 0.00004  dbSNP: rs773498009
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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) RCV000267019 SCV000331972 uncertain significance not provided 2016-12-27 criteria provided, single submitter clinical testing
Invitae RCV000686776 SCV000814309 uncertain significance Glycogen storage disease, type II 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 808 of the GAA protein (p.Pro808Leu). This variant is present in population databases (rs773498009, gnomAD 0.01%). 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: 281274). 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.
Genome-Nilou Lab RCV000686776 SCV002027310 uncertain significance Glycogen storage disease, type II 2021-09-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000686776 SCV002787088 uncertain significance Glycogen storage disease, type II 2021-08-11 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000267019 SCV003816228 uncertain significance not provided 2022-12-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV000686776 SCV002092139 uncertain significance Glycogen storage disease, type II 2020-03-07 no assertion criteria provided clinical testing

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