ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2871del (p.Asn958fs)

dbSNP: rs1957668488
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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 RCV002037931 SCV002233905 pathogenic Wilson disease 2024-01-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn958Thrfs*9) 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: 9199563, 10721669). ClinVar contains an entry for this variant (Variation ID: 1453526). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV002037931 SCV004216265 pathogenic Wilson disease 2023-10-27 criteria provided, single submitter clinical testing
GeneDx RCV004784020 SCV005396176 pathogenic not provided 2024-05-08 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); This variant is associated with the following publications: (PMID: 10721669, 9199563, 32643122)

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