ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.4125-2A>G

dbSNP: rs1555282347
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668311 SCV000792889 likely pathogenic Wilson disease 2017-07-31 criteria provided, single submitter clinical testing
Invitae RCV000668311 SCV003506401 uncertain significance Wilson disease 2022-06-23 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 552956). Disruption of this splice site has been observed in individual(s) with Wilson disease (PMID: 31708252). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 20 of the ATP7B gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product.
Baylor Genetics RCV000668311 SCV004210693 likely pathogenic Wilson disease 2021-11-26 criteria provided, single submitter clinical testing

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