ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.514A>G (p.Met172Val)

gnomAD frequency: 0.00001  dbSNP: rs1307823755
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000800653 SCV000940383 uncertain significance Glycogen storage disease, type II 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 172 of the GAA protein (p.Met172Val). This variant is not present in population databases (gnomAD no frequency). 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: 646375). 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.
Fulgent Genetics, Fulgent Genetics RCV000800653 SCV002777503 uncertain significance Glycogen storage disease, type II 2021-08-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV000800653 SCV001453410 uncertain significance Glycogen storage disease, type II 2020-01-17 no assertion criteria provided clinical testing

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