ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.211A>G (p.Thr71Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003623572 SCV004473152 uncertain significance Danon disease 2023-09-15 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 71 of the LAMP2 protein (p.Thr71Ala). This variant is present in population databases (rs747390282, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with LAMP2-related conditions. 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 LAMP2 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.

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