ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1543+1G>C

dbSNP: rs1360279134
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002037934 SCV002233910 pathogenic Wilson disease 2022-07-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site results in retention of 106 nucleotides of intron 3 and introduces a premature termination codon (PMID: 15024742). The resulting mRNA is expected to undergo nonsense-mediated decay. This variant is present in population databases (no rsID available, gnomAD 0.003%). Disruption of this splice site has been observed in individual(s) with Wilson disease (PMID: 9671269, 15024742, 21796144, 30120852; Invitae). ClinVar contains an entry for this variant (Variation ID: 1453539). This sequence change affects a donor splice site in intron 3 of the ATP7B gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product.
Baylor Genetics RCV002037934 SCV004216449 pathogenic Wilson disease 2023-03-20 criteria provided, single submitter clinical testing

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