ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3700-1G>A (rs1555284021)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664525 SCV000788502 likely pathogenic Wilson disease 2017-05-26 criteria provided, single submitter clinical testing
Invitae RCV000664525 SCV001397979 likely pathogenic Wilson disease 2019-10-29 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 17 of the ATP7B gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Wilson disease (PMID: 18034201). ClinVar contains an entry for this variant (Variation ID: 549941). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ATP7B are known to be pathogenic (PMID: 10441329, 16283883). 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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