Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002535024 | SCV003446608 | uncertain significance | Wilson disease | 2022-08-22 | criteria provided, single submitter | clinical testing | This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 271 of the ATP7B protein (p.Cys271Arg). This variant is present in population databases (no rsID available, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with ATP7B-related conditions. ClinVar contains an entry for this variant (Variation ID: 591036). 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 expected to disrupt ATP7B protein function. 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 | RCV002533065 | SCV003755575 | uncertain significance | Inborn genetic diseases | 2022-02-01 | criteria provided, single submitter | clinical testing | The c.811T>C (p.C271R) alteration is located in exon 2 (coding exon 2) of the ATP7B gene. This alteration results from a T to C substitution at nucleotide position 811, causing the cysteine (C) at amino acid position 271 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Gharavi Laboratory, |
RCV000722212 | SCV000853343 | uncertain significance | not provided | 2018-09-16 | no assertion criteria provided | research |