ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1707+29dup

gnomAD frequency: 0.00273  dbSNP: rs113829533
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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, Inc. RCV001001471 SCV001463847 likely benign Wilson disease 2020-09-16 no assertion criteria provided clinical testing

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