ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2428C>T (p.Pro810Ser)

dbSNP: rs774470696
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001219641 SCV001391589 uncertain significance Glycogen storage disease, type II 2023-08-17 criteria provided, single submitter clinical testing 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 expected to disrupt GAA protein function. ClinVar contains an entry for this variant (Variation ID: 948394). This variant has not been reported in the literature in individuals affected with GAA-related conditions. This variant is present in population databases (rs774470696, gnomAD 0.003%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 810 of the GAA protein (p.Pro810Ser). 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.

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