ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2399G>T (p.Ser800Ile)

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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 RCV003502385 SCV004312894 pathogenic Glycogen storage disease, type II 2023-09-07 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with Pompe disease (PMID: 36105079; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. For these reasons, this variant has been classified as Pathogenic. 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. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 800 of the GAA protein (p.Ser800Ile).

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