Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001221309 | SCV001393348 | uncertain significance | not provided | 2021-08-31 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine with phenylalanine at codon 970 of the ELP1 protein (p.Leu970Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is not present in population databases (ExAC no frequency). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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 | RCV004032416 | SCV002755660 | uncertain significance | not specified | 2021-08-04 | criteria provided, single submitter | clinical testing | The p.L970F variant (also known as c.2910G>T), located in coding exon 26 of the IKBKAP gene, results from a G to T substitution at nucleotide position 2910. The leucine at codon 970 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is conserved. 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, |
RCV001828764 | SCV002082058 | uncertain significance | Familial dysautonomia | 2020-05-21 | no assertion criteria provided | clinical testing |