ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.706G>T (p.Val236Leu)

gnomAD frequency: 0.00001  dbSNP: rs777964427
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001306509 SCV001495884 uncertain significance Glycogen storage disease, type II 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 236 of the GAA protein (p.Val236Leu). This variant is present in population databases (rs777964427, gnomAD 0.02%). 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: 1009071). 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.
Natera, Inc. RCV001306509 SCV002091957 uncertain significance Glycogen storage disease, type II 2021-05-27 no assertion criteria provided clinical testing

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