Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV003464933 | SCV004216354 | pathogenic | Wilson disease | 2023-08-24 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV003464933 | SCV004296499 | pathogenic | Wilson disease | 2023-09-10 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with Wilson disease (PMID: 15024742). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro479Hisfs*19) in the ATP7B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATP7B are known to be pathogenic (PMID: 10441329, 16283883). |
All of Us Research Program, |
RCV003464933 | SCV004842476 | pathogenic | Wilson disease | 2023-12-13 | criteria provided, single submitter | clinical testing | This variant deletes 1 nucleotide in exon 3 of the ATP7B gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been observed in an individual affected with autosomal recessive Wilson disease in unknown phase with a second pathogenic variant in ATP7B (PMID: 15024742). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of ATP7B function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. |