ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1846G>A (p.Asp616Asn)

dbSNP: rs796161389
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001918845 SCV002184870 pathogenic Glycogen storage disease, type II 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 616 of the GAA protein (p.Asp616Asn). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Pompe disease (PMID: 21488246, 22185990, 31086307, 31342611). ClinVar contains an entry for this variant (Variation ID: 1411511). 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 with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV003490935 SCV004238201 likely pathogenic not provided 2023-08-16 criteria provided, single submitter clinical testing

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