ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3904-2A>G (rs1057517233)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411074 SCV000486955 pathogenic Wilson disease 2016-09-15 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000411074 SCV000694458 pathogenic Wilson disease 2016-08-25 criteria provided, single submitter clinical testing Variant summary: The ATP7B c.3904-2A>G variant involves the alteration of a conserved intronic nucleotide. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict the complete loss of a canonical splice acceptor site. This variant is absent in 120778 control chromosomes but has been found in numerous affected individuals in the litearture. Taken together, this variant is classified as pathogenic.

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