Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001043773 | SCV001207535 | uncertain significance | Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 | 2022-08-23 | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 841529). This variant has not been reported in the literature in individuals affected with ADAR-related conditions. This variant is present in population databases (rs556625861, gnomAD 0.03%). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 601 of the ADAR protein (p.Thr601Ala). |
Ambry Genetics | RCV002552536 | SCV003579800 | uncertain significance | Inborn genetic diseases | 2021-10-12 | criteria provided, single submitter | clinical testing | The c.1801A>G (p.T601A) alteration is located in exon 4 (coding exon 4) of the ADAR gene. This alteration results from a A to G substitution at nucleotide position 1801, causing the threonine (T) at amino acid position 601 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Genome- |
RCV003339440 | SCV004050359 | uncertain significance | Aicardi-Goutieres syndrome 6 | 2023-04-11 | criteria provided, single submitter | clinical testing |