ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1770dup (p.Gly591fs)

dbSNP: rs2139775159
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001954502 SCV002187601 pathogenic Wilson disease 2021-04-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly591Trpfs*17) 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 (ExAC no frequency). This variant has been observed in individual(s) with Wilson disease (PMID: 30230192). For these reasons, this variant has been classified as Pathogenic.

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