ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3244-2A>G (rs786204584)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169327 SCV000220662 likely pathogenic Wilson disease 2014-09-02 criteria provided, single submitter literature only
Invitae RCV000169327 SCV001229833 pathogenic Wilson disease 2019-05-30 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 14 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 combination with another ATP7B variant in individuals affected with Wilson disease (PMID: 21796144, 29356957). ClinVar contains an entry for this variant (Variation ID: 188953). 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). For these reasons, this variant has been classified as Pathogenic.

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