ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.859C>T (p.Pro287Ser)

gnomAD frequency: 0.00002  dbSNP: rs369735511
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000811726 SCV000952008 uncertain significance Glycogen storage disease, type II 2022-07-15 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 287 of the GAA protein (p.Pro287Ser). This variant is present in population databases (rs369735511, gnomAD 0.003%). 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: 655532). 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. RCV000811726 SCV002091970 uncertain significance Glycogen storage disease, type II 2020-10-21 no assertion criteria provided clinical testing

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