ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1340_1343del (p.Gln447fs)

dbSNP: rs1057517444
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412377 SCV000487291 likely pathogenic Wilson disease 2016-11-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000412377 SCV002237009 pathogenic Wilson disease 2024-07-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln447Leufs*50) 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: 9311736). ClinVar contains an entry for this variant (Variation ID: 371656). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000412377 SCV004216413 pathogenic Wilson disease 2023-05-31 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000412377 SCV004846338 pathogenic Wilson disease 2023-12-18 criteria provided, single submitter clinical testing This variant deletes 4 nucleotides in exon 3 of the ATP7B gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. Functional studies suggests this variant disrupts intracellular localization of ATP7B (PMID: 12557139). This variant has been reported in individuals affected with Wilson disease (PMID: 9311736, 12557139, 15967699, 20958917). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of ATP7B function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

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