Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001051342 | SCV001215489 | uncertain significance | not provided | 2022-07-06 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 198 of the ELP1 protein (p.Val198Ala). This variant is not present in population databases (gnomAD no frequency). 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: 847738). 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 | RCV004031595 | SCV005021084 | uncertain significance | not specified | 2024-03-11 | criteria provided, single submitter | clinical testing | The p.V198A variant (also known as c.593T>C), located in coding exon 6 of the IKBKAP gene, results from a T to C substitution at nucleotide position 593. The valine at codon 198 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear. |
| Natera, |
RCV001276637 | SCV001463090 | uncertain significance | Familial dysautonomia | 2020-09-16 | no assertion criteria provided | clinical testing |