Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000650239 | SCV000772079 | uncertain significance | Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 | 2022-04-07 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 540264). This variant has not been reported in the literature in individuals affected with ADAR-related conditions. This sequence change replaces asparagine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 368 of the ADAR protein (p.Asn368Ile). |
Revvity Omics, |
RCV003140041 | SCV003824990 | uncertain significance | not provided | 2022-05-31 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003338720 | SCV004050377 | uncertain significance | Aicardi-Goutieres syndrome 6 | 2023-04-11 | criteria provided, single submitter | clinical testing |