ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2041C>T (p.Pro681Ser)

dbSNP: rs2039286160
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001035696 SCV001199030 uncertain significance Glycogen storage disease, type II 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 681 of the GAA protein (p.Pro681Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with GAA-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Natera, Inc. RCV001035696 SCV002092092 uncertain significance Glycogen storage disease, type II 2020-09-02 no assertion criteria provided clinical testing

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