ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2588del (p.Pro863fs)

dbSNP: rs2139212289
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001984737 SCV002217472 pathogenic Wilson disease 2022-09-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro863Glnfs*10) 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. ClinVar contains an entry for this variant (Variation ID: 1434876). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001984737 SCV005053104 likely pathogenic Wilson disease 2023-11-21 criteria provided, single submitter clinical testing
GeneDx RCV005241479 SCV005889012 pathogenic not provided 2024-09-13 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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