Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000234637 | SCV000287342 | uncertain significance | Danon disease | 2022-09-17 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 239117). This variant has not been reported in the literature in individuals affected with LAMP2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 8 of the LAMP2 protein (p.Pro8Leu). |
| Ambry Genetics | RCV002429107 | SCV002731502 | uncertain significance | Cardiovascular phenotype | 2022-08-29 | criteria provided, single submitter | clinical testing | The p.P8L variant (also known as c.23C>T), located in coding exon 1 of the LAMP2 gene, results from a C to T substitution at nucleotide position 23. The proline at codon 8 is replaced by leucine, an amino acid with similar properties. This amino acid position is not well 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. |
| Stanford Center for Inherited Cardiovascular Disease, |
RCV000786341 | SCV000925119 | uncertain significance | not provided | 2016-01-27 | no assertion criteria provided | provider interpretation |