ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2605G>T (p.Gly869Ter)

dbSNP: rs191312027
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001817790 SCV002069206 pathogenic not provided 2018-06-18 criteria provided, single submitter clinical testing DNA sequence analysis of the ATP7B gene demonstrated the c.2605G>T sequence change in exon 11, that results in the creation of a premature stop codon at amino acid position 869, p.Gly869*. This pathogenic sequence change is predicted to result in an abnormal transcript, which may be degraded, or may lead to the production of a truncated ATP7B protein with potentially abnormal function. Truncating variants in ATP7B have been previously described in patients with Wilson disease (PMID: 18373411). This sequence change was identified with another pathogenic ATP7B variant in a patient.
Labcorp Genetics (formerly Invitae), Labcorp RCV002542703 SCV002950507 pathogenic Wilson disease 2023-08-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1338419). This premature translational stop signal has been observed in individual(s) with Wilson disease (PMID: 31708252). This variant is present in population databases (rs191312027, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Gly869*) 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).
Baylor Genetics RCV002542703 SCV004210685 pathogenic Wilson disease 2022-03-02 criteria provided, single submitter clinical testing

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