Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002533614 | SCV000829963 | uncertain significance | not provided | 2021-08-31 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with leucine at codon 8 of the ELP1 protein (p.Arg8Leu). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and leucine. This variant is present in population databases (rs370041985, ExAC 0.001%). This variant has not been reported in the literature in individuals affected with ELP1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. |
| Ambry Genetics | RCV004026541 | SCV002755130 | uncertain significance | not specified | 2021-04-08 | criteria provided, single submitter | clinical testing | The p.R8L variant (also known as c.23G>T), located in coding exon 1 of the IKBKAP gene, results from a G to T substitution at nucleotide position 23. The arginine at codon 8 is replaced by leucine, an amino acid with dissimilar 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. |
| Natera, |
RCV000701177 | SCV001463107 | uncertain significance | Familial dysautonomia | 2020-09-16 | no assertion criteria provided | clinical testing |