ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1947C>A (p.Phe649Leu)

dbSNP: rs770248553
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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 RCV000693838 SCV000822259 uncertain significance Glycogen storage disease, type II 2018-03-28 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 649 of the GAA protein (p.Phe649Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with GAA-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; 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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