ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2164A>T (p.Thr722Ser)

gnomAD frequency: 0.00002  dbSNP: rs774307734
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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) RCV000734536 SCV000862686 uncertain significance not provided 2018-07-31 criteria provided, single submitter clinical testing
Invitae RCV000814138 SCV000954539 uncertain significance Glycogen storage disease, type II 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 722 of the GAA protein (p.Thr722Ser). This variant is not present in population databases (gnomAD no frequency). 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: 598200). 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 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 RCV000814138 SCV002027297 uncertain significance Glycogen storage disease, type II 2021-09-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002424746 SCV002731324 uncertain significance Cardiovascular phenotype 2021-07-18 criteria provided, single submitter clinical testing The p.T722S variant (also known as c.2164A>T), located in coding exon 14 of the GAA gene, results from an A to T substitution at nucleotide position 2164. The threonine at codon 722 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV000814138 SCV002787294 uncertain significance Glycogen storage disease, type II 2021-07-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV000814138 SCV002092105 uncertain significance Glycogen storage disease, type II 2020-12-29 no assertion criteria provided clinical testing

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