Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000588583 | SCV000694402 | likely benign | not provided | 2016-06-15 | criteria provided, single submitter | clinical testing | Variant summary: The ATP7B c.1707+29dupA variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 105/120656 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.0094917 (93/9798). This frequency is about 2 times the estimated maximal expected allele frequency of a pathogenic ATP7B variant (0.0054006), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. 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. Taken together, the variant was classified as likely benign until additional information becomes available. |
Natera, |
RCV001001471 | SCV001463847 | likely benign | Wilson disease | 2020-09-16 | no assertion criteria provided | clinical testing |