ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3010C>T (p.Gln1004Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003041192 SCV003442172 pathogenic Wilson disease 2022-06-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1004*) 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 premature translational stop signal has been observed in individual(s) with Wilson disease (PMID: 27022412). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003041192 SCV004216500 pathogenic Wilson disease 2022-08-23 criteria provided, single submitter clinical testing

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