Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000588068 | SCV000694442 | uncertain significance | not provided | 2016-07-19 | criteria provided, single submitter | clinical testing | Variant summary: The ATP7B c.3221C>T (p.Ala1074Val) variant involves the alteration of a conserved nucleotide. 5/5 in silico tools predict a damaging outcome for this variant. Ala1074 is highly conserved across species and is located in the P-type ATPase, cytoplasmic domain N of the Copper-transporting ATPase 2 protein. This variant was found in 1/130990 control chromosomes at a frequency of 0.0000076, which does not exceed the estimated maximal expected allele frequency of a pathogenic ATP7B variant (0.0054006). The variant was identified in heterozygous state in one WD patient reported in the literature, but a variant in trans was not identified and co-segregation studies were not done, thus it is unclear if this variant is causal. Because of limited clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available. |
| Fulgent Genetics, |
RCV001829614 | SCV002789053 | uncertain significance | Wilson disease | 2022-05-13 | criteria provided, single submitter | clinical testing | |
| Mayo Clinic Laboratories, |
RCV000588068 | SCV004226656 | likely pathogenic | not provided | 2023-03-28 | criteria provided, single submitter | clinical testing | PP3, PP4, PM2, PM3 |
| Natera, |
RCV001829614 | SCV002086826 | uncertain significance | Wilson disease | 2020-08-13 | no assertion criteria provided | clinical testing |