Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001044713 | SCV001208524 | uncertain significance | not provided | 2021-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces methionine with threonine at codon 1001 of the ELP1 protein (p.Met1001Thr). The methionine residue is weakly conserved and there is a moderate physicochemical difference between methionine and threonine. This variant is present in population databases (rs144959233, ExAC 0.006%). 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: 842314). 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. |
| Ambry Genetics | RCV004031367 | SCV002756204 | uncertain significance | not specified | 2022-03-14 | criteria provided, single submitter | clinical testing | The p.M1001T variant (also known as c.3002T>C), located in coding exon 27 of the IKBKAP gene, results from a T to C substitution at nucleotide position 3002. The methionine at codon 1001 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. 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, |
RCV001832423 | SCV002082051 | uncertain significance | Familial dysautonomia | 2020-09-16 | no assertion criteria provided | clinical testing |