Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000662033 | SCV000784369 | uncertain significance | AICA-ribosiduria | 2018-03-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001855397 | SCV002281089 | uncertain significance | not provided | 2022-09-23 | criteria provided, single submitter | clinical testing | This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 584 of the ATIC protein (p.His584Arg). This variant is present in population databases (rs201429123, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ATIC-related conditions. ClinVar contains an entry for this variant (Variation ID: 548528). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ATIC protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 | RCV003278979 | SCV003984422 | uncertain significance | Inborn genetic diseases | 2023-04-04 | criteria provided, single submitter | clinical testing | The c.1751A>G (p.H584R) alteration is located in exon 16 (coding exon 16) of the ATIC gene. This alteration results from a A to G substitution at nucleotide position 1751, causing the histidine (H) at amino acid position 584 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |