Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001042128 | SCV001205792 | uncertain significance | Wilson disease | 2021-08-27 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with proline at codon 1439 of the ATP7B protein (p.Ser1439Pro). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and proline. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with ATP7B-related conditions. 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. 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 | RCV002551507 | SCV003646740 | uncertain significance | Inborn genetic diseases | 2022-10-05 | criteria provided, single submitter | clinical testing | The c.4315T>C (p.S1439P) alteration is located in exon 21 (coding exon 21) of the ATP7B gene. This alteration results from a T to C substitution at nucleotide position 4315, causing the serine (S) at amino acid position 1439 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |