ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2776T>C (p.Phe926Leu)

dbSNP: rs1555603301
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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 RCV000559302 SCV000626599 uncertain significance Glycogen storage disease, type II 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 926 of the GAA protein (p.Phe926Leu). The phenylalanine residue is moderately 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 affected with GAA-related conditions. ClinVar contains an entry for this variant (Variation ID: 456416). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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