ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1996G>T (p.Ala666Ser)

gnomAD frequency: 0.00001  dbSNP: rs916566117
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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 RCV000631096 SCV000752089 uncertain significance Glycogen storage disease, type II 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 666 of the GAA protein (p.Ala666Ser). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and serine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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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