ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1908dup (p.Asn637fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003464938 SCV004216393 likely pathogenic Wilson disease 2023-06-24 criteria provided, single submitter clinical testing
Invitae RCV003464938 SCV004325309 pathogenic Wilson disease 2023-09-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn637Glnfs*118) in the ATP7B gene. It is expected to result in an absent or disrupted protein product. 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). This variant has not been reported in the literature in individuals affected with ATP7B-related conditions. 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.

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