Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000169312 | SCV000220636 | likely pathogenic | Wilson disease | 2014-08-26 | criteria provided, single submitter | literature only | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000169312 | SCV000694470 | pathogenic | Wilson disease | 2017-02-14 | criteria provided, single submitter | clinical testing | Variant summary: The ATP7B c.778dupC (p.Gln260Profs) variant results in a premature termination codon, predicted to cause a truncated or absent ATP7B protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as likely pathogenic/pathogenic by our laboratory (e.g. c.813delC (p.Cys271fs), c.845delT (p.Leu282fs), and c.1145_1151delCCCAACT (p.Ser382fs)). Mutation taster predicts a damaging outcome for this variant. This variant is absent in 120078 control chromosomes, while it was reported in multiple Wilson disease patients indicating pathogenicity. Moreover, HGMD lists several variants affecting the same codon indicating the variant to be located in a mutational hotspot and further supporting pathogenicity. One clinical diagnostic laboratory classified this variant as likely pathogenic. Taken together, this variant is classified as pathogenic. |
Labcorp Genetics |
RCV000169312 | SCV000752251 | pathogenic | Wilson disease | 2023-11-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln260Profs*10) 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 (rs786204570, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with Wilson disease (PMID: 10980554, 11216666, 19172127, 20082719). This variant is also known as 777insC, 778insC, or 779insC. ClinVar contains an entry for this variant (Variation ID: 188938). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV001560289 | SCV001782669 | pathogenic | not provided | 2021-08-04 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease This variant is associated with the following publications: (PMID: 10980554, 19172127, 11216666, 20082719) |
Genome- |
RCV000169312 | SCV001977397 | pathogenic | Wilson disease | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV001560289 | SCV002525829 | likely pathogenic | not provided | 2021-11-08 | criteria provided, single submitter | clinical testing | PM2, PVS1 |
Fulgent Genetics, |
RCV000169312 | SCV002785210 | pathogenic | Wilson disease | 2021-09-03 | criteria provided, single submitter | clinical testing | |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV000169312 | SCV004099059 | likely pathogenic | Wilson disease | 2023-08-23 | criteria provided, single submitter | clinical testing | PVS1, PM2 |
Baylor Genetics | RCV000169312 | SCV004216438 | pathogenic | Wilson disease | 2023-11-19 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001560289 | SCV004701957 | pathogenic | not provided | 2024-07-01 | criteria provided, single submitter | clinical testing | ATP7B: PVS1, PM2, PM3 |
Genome |
RCV000169312 | SCV000986857 | not provided | Wilson disease | no assertion provided | phenotyping only | Variant interpretted as pathogenic and reported on 07/25/2018 by GTR ID PerkinElmer Genetics, Inc.. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. | |
Natera, |
RCV000169312 | SCV002087895 | pathogenic | Wilson disease | 2020-09-21 | no assertion criteria provided | clinical testing | |
Genomics And Bioinformatics Analysis Resource, |
RCV000169312 | SCV004024121 | pathogenic | Wilson disease | no assertion criteria provided | research |