ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1703A>T (p.His568Leu)

dbSNP: rs2143882997
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001781144 SCV002025203 likely pathogenic not provided 2020-07-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001885183 SCV002142406 pathogenic Glycogen storage disease, type II 2021-11-26 criteria provided, single submitter clinical testing 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. For these reasons, this variant has been classified as Pathogenic. This missense change has been observed in individual(s) with Pompe disease (PMID: 15986226, 32711049). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 568 of the GAA protein (p.His568Leu).
Baylor Genetics RCV001885183 SCV004195459 pathogenic Glycogen storage disease, type II 2023-10-03 criteria provided, single submitter clinical testing

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