ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.685C>T (p.Arg229Cys)

gnomAD frequency: 0.00002  dbSNP: rs375295347
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000346548 SCV000339602 uncertain significance not provided 2017-04-06 criteria provided, single submitter clinical testing
Invitae RCV000823361 SCV000964215 uncertain significance Glycogen storage disease, type II 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 229 of the GAA protein (p.Arg229Cys). This variant is present in population databases (rs375295347, gnomAD 0.003%). 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: 286250). 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.
Illumina Laboratory Services, Illumina RCV000823361 SCV001284367 uncertain significance Glycogen storage disease, type II 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV000346548 SCV001788654 uncertain significance not provided 2020-11-12 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 does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000823361 SCV002027232 uncertain significance Glycogen storage disease, type II 2021-09-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV000823361 SCV001453413 uncertain significance Glycogen storage disease, type II 2019-10-28 no assertion criteria provided clinical testing

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