Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000589895 | SCV000694397 | uncertain significance | not provided | 2017-08-23 | criteria provided, single submitter | clinical testing | Variant summary: The ATP7B c.1291T>C (p.Cys431Arg) variant involves the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in 23/120188 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.001549 (15/9684). This frequency does not exceed the estimated maximal expected allele frequency of a pathogenic ATP7B variant (0.0054006). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a "Variant of Uncertain Significance (VUS)," until additional information becomes available. |
Invitae | RCV001459906 | SCV001663762 | likely benign | Wilson disease | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001459906 | SCV001977184 | uncertain significance | Wilson disease | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000589895 | SCV004012389 | uncertain significance | not provided | 2023-07-06 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |