Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001880270 | SCV002265910 | uncertain significance | not provided | 2022-07-29 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 219 of the ELP1 protein (p.Arg219Trp). This variant is present in population databases (rs374238430, gnomAD 0.007%). 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: 990667). 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: "Deleterious"; 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 | RCV002462899 | SCV002754774 | uncertain significance | Inborn genetic diseases | 2021-04-20 | criteria provided, single submitter | clinical testing | The p.R219W variant (also known as c.655C>T), located in coding exon 7 of the IKBKAP gene, results from a C to T substitution at nucleotide position 655. The arginine at codon 219 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Natera, |
RCV001278732 | SCV001465764 | uncertain significance | Familial dysautonomia | 2020-08-10 | no assertion criteria provided | clinical testing |