ClinVar Miner

Submissions for variant NM_000053.3(ATP7B):c.-436_-422del15 (rs1484840087)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671857 SCV000796886 pathogenic Wilson disease 2018-01-03 criteria provided, single submitter clinical testing
Invitae RCV000671857 SCV001389182 likely pathogenic Wilson disease 2019-08-26 criteria provided, single submitter clinical testing This sequence change falls in the 5' UTR of the ATP7B gene. It does not change the encoded amino acid sequence of the ATP7B protein, but has been reported to effect expression. This variant has been observed in many Sardinian individuals affected with Wilson disease (PMID: 26752957, 10502776, 14616767). Experimental studies have shown that this non-coding change reduces expression of ATP7B (PMID: 10502776). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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