ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1436del (p.Pro479fs)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003464933 SCV004216354 pathogenic Wilson disease 2023-08-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003464933 SCV004296499 pathogenic Wilson disease 2023-09-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with Wilson disease (PMID: 15024742). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro479Hisfs*19) 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).
All of Us Research Program, National Institutes of Health RCV003464933 SCV004842476 pathogenic Wilson disease 2023-12-13 criteria provided, single submitter clinical testing This variant deletes 1 nucleotide 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. This variant has been observed in an individual affected with autosomal recessive Wilson disease in unknown phase with a second pathogenic variant in ATP7B (PMID: 15024742). 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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