Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000608584 | SCV000713211 | uncertain significance | not specified | 2017-05-02 | criteria provided, single submitter | clinical testing | The p.Val72Met variant in LAMP2 has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/19131 South Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/; d bSNP rs778193991). Computational prediction tools and conservation analysis do n ot provide strong support for or against an impact to the protein. In summary, t he clinical significance of the p.Val72Met variant is uncertain. |
Genetics and Genomics Program, |
RCV001293166 | SCV001434163 | uncertain significance | Primary dilated cardiomyopathy | criteria provided, single submitter | research | ||
Labcorp Genetics |
RCV003509578 | SCV004301773 | uncertain significance | Danon disease | 2022-12-15 | 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. 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 expected to disrupt LAMP2 protein function. ClinVar contains an entry for this variant (Variation ID: 505795). This variant has not been reported in the literature in individuals affected with LAMP2-related conditions. This variant is present in population databases (rs778193991, gnomAD 0.005%), including at least one homozygous and/or hemizygous individual. This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 72 of the LAMP2 protein (p.Val72Met). |