Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001982804 | SCV002222054 | uncertain significance | Progressive myoclonic epilepsy type 8 | 2022-08-09 | criteria provided, single submitter | clinical testing | 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. 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 C0"). ClinVar contains an entry for this variant (Variation ID: 1445214). This variant has not been reported in the literature in individuals affected with CERS1-related conditions. This variant is present in population databases (rs368072339, gnomAD 0.09%). This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 279 of the CERS1 protein (p.Pro279Thr). |
| Ambry Genetics | RCV004043715 | SCV004926319 | uncertain significance | not specified | 2024-06-10 | criteria provided, single submitter | clinical testing | The c.835C>A (p.P279T) alteration is located in exon 5 (coding exon 5) of the CERS1 gene. This alteration results from a C to A substitution at nucleotide position 835, causing the proline (P) at amino acid position 279 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |