Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002461280 | SCV002755221 | uncertain significance | Inborn genetic diseases | 2022-08-02 | criteria provided, single submitter | clinical testing | The p.K52E variant (also known as c.154A>G), located in coding exon 2 of the IKBKAP gene, results from an A to G substitution at nucleotide position 154. The lysine at codon 52 is replaced by glutamic acid, 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. |
| Invitae | RCV002525282 | SCV003021622 | uncertain significance | not provided | 2022-06-25 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 52 of the ELP1 protein (p.Lys52Glu). This variant is present in population databases (rs143494120, gnomAD 0.02%). 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: 455955). 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. 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. |
| Natera, |
RCV000540885 | SCV002082184 | uncertain significance | Familial dysautonomia | 2020-07-09 | no assertion criteria provided | clinical testing |