Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001855320 | SCV002123730 | uncertain significance | not provided | 2022-03-24 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 168 of the EIF2AK3 protein (p.Arg168His). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with EIF2AK3-related conditions. ClinVar contains an entry for this variant (Variation ID: 522521). 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: "Probably 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. |
| Fulgent Genetics, |
RCV000625664 | SCV002780866 | uncertain significance | Wolcott-Rallison dysplasia | 2021-11-09 | criteria provided, single submitter | clinical testing | |
| Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV000625664 | SCV000746167 | uncertain significance | Wolcott-Rallison dysplasia | 2017-10-13 | no assertion criteria provided | clinical testing |