Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000671946 | SCV000796990 | uncertain significance | Wilson disease | 2018-01-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000671946 | SCV003442152 | uncertain significance | Wilson disease | 2022-04-18 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 1245 of the ATP7B protein (p.Pro1245Ala). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Wilson disease (PMID: 27022412, 34470610). ClinVar contains an entry for this variant (Variation ID: 556009). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |