ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.77T>G (p.Leu26Arg)

dbSNP: rs1385098269
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000690873 SCV000818602 uncertain significance Glycogen storage disease, type II 2022-02-19 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 26 of the GAA protein (p.Leu26Arg). 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: 570091). 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.
Ambry Genetics RCV004619384 SCV005120168 uncertain significance Cardiovascular phenotype 2024-05-02 criteria provided, single submitter clinical testing The p.L26R variant (also known as c.77T>G), located in coding exon 1 of the GAA gene, results from a T to G substitution at nucleotide position 77. The leucine at codon 26 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
Natera, Inc. RCV000690873 SCV002091886 uncertain significance Glycogen storage disease, type II 2021-09-22 no assertion criteria provided clinical testing

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