Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001036953 | SCV001200343 | uncertain significance | not provided | 2022-05-21 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 553 of the ELP1 protein (p.Val553Leu). This variant is present in population databases (rs376515761, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with ELP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 835947). 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 | RCV004031013 | SCV002756419 | uncertain significance | not specified | 2021-01-04 | criteria provided, single submitter | clinical testing | The p.V553L variant (also known as c.1657G>T), located in coding exon 14 of the IKBKAP gene, results from a G to T substitution at nucleotide position 1657. The valine at codon 553 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is 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, |
RCV001832378 | SCV002082122 | uncertain significance | Familial dysautonomia | 2021-01-29 | no assertion criteria provided | clinical testing |