Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000802352 | SCV000942178 | pathogenic | Wilson disease | 2023-12-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val73Glufs*4) 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). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with Wilson disease (PMID: 8533760). This variant is also known as 214delAT. ClinVar contains an entry for this variant (Variation ID: 647773). For these reasons, this variant has been classified as Pathogenic. |
| Genome- |
RCV000802352 | SCV001977409 | pathogenic | Wilson disease | 2021-08-10 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000802352 | SCV002074307 | pathogenic | Wilson disease | 2022-01-17 | criteria provided, single submitter | clinical testing | Variant summary: ATP7B c.213_214delAT (p.Val73GlufsX4) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 4e-06 in 249202 control chromosomes (gnomAD). c.213_214delAT has been reported in the literature in multiple individuals affected with Wilson Disease (e.g. Angius_1998, Gialluisi_2013). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two ClinVar submitters (evaluation after 2014) cite the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Fulgent Genetics, |
RCV000802352 | SCV002787194 | pathogenic | Wilson disease | 2021-10-11 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV000802352 | SCV004216298 | pathogenic | Wilson disease | 2023-10-10 | criteria provided, single submitter | clinical testing |