ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.607C>T (p.Arg203Trp)

gnomAD frequency: 0.00001  dbSNP: rs751286274
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000432229 SCV000528796 uncertain significance not provided 2018-12-13 criteria provided, single submitter clinical testing TThe R203W variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R203W variant is observed in 4/33578 (0.01%) alleles from individuals of Latino background in large population cohorts (Lek et al., 2016). The R203W variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000631082 SCV000752075 uncertain significance Glycogen storage disease, type II 2022-03-28 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 203 of the GAA protein (p.Arg203Trp). This variant is present in population databases (rs751286274, gnomAD 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: 386960). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt GAA 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 RCV000631082 SCV002027225 uncertain significance Glycogen storage disease, type II 2021-09-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV000631082 SCV002091940 uncertain significance Glycogen storage disease, type II 2020-08-24 no assertion criteria provided clinical testing

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