ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1402A>C (p.Ile468Leu)

dbSNP: rs886043148
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001864080 SCV002124074 uncertain significance Glycogen storage disease, type II 2021-10-08 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with leucine at codon 468 of the GAA protein (p.Ile468Leu). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and leucine. 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. 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.

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