Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000250402 | SCV000320548 | likely benign | Cardiovascular phenotype | 2023-10-10 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| Gene |
RCV001610767 | SCV001840564 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001859470 | SCV002174705 | uncertain significance | Danon disease | 2022-07-19 | criteria provided, single submitter | clinical testing | This sequence change affects codon 61 of the LAMP2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the LAMP2 protein. It affects a nucleotide within the consensus splice site. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 264545). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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. |