ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2540T>G (p.Leu847Arg)

dbSNP: rs1555603096
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596654 SCV000706493 uncertain significance not provided 2017-03-09 criteria provided, single submitter clinical testing
Invitae RCV001854060 SCV002156077 uncertain significance Glycogen storage disease, type II 2021-08-31 criteria provided, single submitter clinical testing 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. 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: 500504). This missense change has been observed in individual(s) with a positive newborn screening result for GAA-related disease (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with arginine at codon 847 of the GAA protein (p.Leu847Arg). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and arginine.

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