ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.209G>T (p.Gly70Val)

gnomAD frequency: 0.00001  dbSNP: rs1340367353
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002421249 SCV002725863 uncertain significance Cardiovascular phenotype 2019-01-28 criteria provided, single submitter clinical testing The p.G70V variant (also known as c.209G>T), located in coding exon 3 of the LAMP2 gene, results from a G to T substitution at nucleotide position 209. The glycine at codon 70 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003771883 SCV004676697 uncertain significance Danon disease 2023-08-03 criteria provided, single submitter clinical testing 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. This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 70 of the LAMP2 protein (p.Gly70Val). This variant is present in population databases (no rsID available, gnomAD 0.01%), 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: 1299879). 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001730307 SCV001978588 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001730307 SCV001979375 likely benign not provided no assertion criteria provided clinical testing

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