ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2330C>T (p.Thr777Met)

gnomAD frequency: 0.00004  dbSNP: rs746779016
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000293486 SCV000407297 uncertain significance Glycogen storage disease, type II 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000293486 SCV000626563 uncertain significance Glycogen storage disease, type II 2022-05-10 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 777 of the GAA protein (p.Thr777Met). This variant is present in population databases (rs746779016, gnomAD 0.007%). This missense change has been observed in individual(s) with limb-girdle muscle weakness and/or elevated serum creatine kinase (PMID: 29149851). ClinVar contains an entry for this variant (Variation ID: 325793). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Genome-Nilou Lab RCV000293486 SCV002027305 uncertain significance Glycogen storage disease, type II 2021-09-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV000293486 SCV002092127 uncertain significance Glycogen storage disease, type II 2020-03-31 no assertion criteria provided clinical testing

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