ClinVar Miner

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

dbSNP: rs786204584
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Total submissions: 7
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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 2023-12-25 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. Variants that disrupt the donor or acceptor splice site 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). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) 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. For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000169327 SCV001977263 pathogenic Wilson disease 2021-08-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000169327 SCV002809726 pathogenic Wilson disease 2021-07-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV000169327 SCV004216276 pathogenic Wilson disease 2023-10-24 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480072 SCV004226653 pathogenic not provided 2022-09-13 criteria provided, single submitter clinical testing PP4, PM2, PM3, PS4_moderate, PVS1
Natera, Inc. RCV000169327 SCV002086825 pathogenic Wilson disease 2020-12-17 no assertion criteria provided clinical testing

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