Submissions for variant NM_002294.3(LAMP2):c.731C>G (p.Thr244Ser)

dbSNP: rs1288096114

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001057368	SCV001221855	uncertain significance	Danon disease	2024-12-10	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 244 of the LAMP2 protein (p.Thr244Ser). This variant is present in population databases (no rsID available, gnomAD 0.02%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with LAMP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 852704). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt LAMP2 protein function with a negative predictive value of 80%. 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.
Institute of Human Genetics, University of Leipzig Medical Center	RCV001057368	SCV001440530	uncertain significance	Danon disease	2020-09-28	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001057368	SCV002786139	uncertain significance	Danon disease	2021-10-06	criteria provided, single submitter	clinical testing