ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.502C>T (p.Arg168Trp)

gnomAD frequency: 0.00004  dbSNP: rs777473001
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001044499 SCV001208300 uncertain significance Glycogen storage disease, type II 2022-01-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 168 of the GAA protein (p.Arg168Trp). This variant is present in population databases (rs777473001, gnomAD 0.004%). This missense change has been observed in individual(s) with Pompe disease (PMID: 30155607). ClinVar contains an entry for this variant (Variation ID: 842132). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant disrupts the p.Arg168 amino acid residue in GAA. Other variant(s) that disrupt this residue have been observed in individuals with GAA-related conditions (PMID: 21488292, 25526786, 30155607), which suggests that this may be a clinically significant amino acid residue. 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.
GeneDx RCV001759959 SCV001998265 uncertain significance not provided 2020-05-20 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30155607)
Genome-Nilou Lab RCV001044499 SCV002027216 uncertain significance Glycogen storage disease, type II 2021-09-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001044499 SCV002789176 uncertain significance Glycogen storage disease, type II 2021-12-10 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001759959 SCV003828439 uncertain significance not provided 2021-03-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001044499 SCV002091926 uncertain significance Glycogen storage disease, type II 2020-12-14 no assertion criteria provided clinical testing

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