ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.658G>T (p.Val220Leu) (rs530478036)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000244709 SCV000302694 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000631081 SCV000752074 uncertain significance Glycogen storage disease, type II 2017-12-29 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 220 of the GAA protein (p.Val220Leu). The valine residue is moderately conserved and there is a small physicochemical difference between valine and leucine. This variant is present in population databases (rs530478036, ExAC 0.01%). This variant has been reported in an individual affected with GAA-related disease (PMID: 22644586). ClinVar contains an entry for this variant (Variation ID: 255365). Experimental studies have shown that this missense change does not affect the synthesis and function of alpha-glucosidase in a transient expression assay (PMID: 22644586). 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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