ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.74C>T (p.Ala25Val)

gnomAD frequency: 0.00001  dbSNP: rs768867363
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593045 SCV000701493 uncertain significance not provided 2016-10-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002530965 SCV003522632 uncertain significance Glycogen storage disease, type II 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 25 of the GAA protein (p.Ala25Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs768867363, ExAC 0.01%). 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: 497169). 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 valine 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.
Fulgent Genetics, Fulgent Genetics RCV002530965 SCV005653170 uncertain significance Glycogen storage disease, type II 2024-06-12 criteria provided, single submitter clinical testing

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