Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001211982 | SCV001383551 | uncertain significance | Supravalvar aortic stenosis | 2023-08-30 | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 942072). This variant has not been reported in the literature in individuals affected with ELN-related conditions. This variant is present in population databases (rs782225994, gnomAD 0.004%). This variant, c.1602_1637del, results in the deletion of 12 amino acid(s) of the ELN protein (p.Val536_Gly547del), but otherwise preserves the integrity of the reading frame. |
Gene |
RCV001536792 | SCV001753600 | uncertain significance | not provided | 2021-03-30 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; In-frame deletion of 12 amino acids in a repetitive region with no known function |
Revvity Omics, |
RCV001536792 | SCV003831889 | uncertain significance | not provided | 2021-12-10 | criteria provided, single submitter | clinical testing |