Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001246735 | SCV001420115 | uncertain significance | not provided | 2022-07-13 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1317 of the ELP1 protein (p.Pro1317Thr). This variant is present in population databases (rs199595486, 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: 971048). 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: "Tolerated"; 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 | RCV002462877 | SCV002755584 | uncertain significance | Inborn genetic diseases | 2020-12-18 | criteria provided, single submitter | clinical testing | The p.P1317T variant (also known as c.3949C>A), located in coding exon 36 of the IKBKAP gene, results from a C to A substitution at nucleotide position 3949. The proline at codon 1317 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is highly 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. |
Gene |
RCV001246735 | SCV002770247 | uncertain significance | not provided | 2022-06-21 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV002480843 | SCV002788616 | uncertain significance | Medulloblastoma; Familial dysautonomia | 2022-05-12 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001279852 | SCV001466985 | uncertain significance | Familial dysautonomia | 2020-08-28 | no assertion criteria provided | clinical testing |