ClinVar Miner

Submissions for variant NC_000013.11:g.(?_52011277)_(52029658_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001032804 SCV001196111 pathogenic Wilson disease 2022-10-14 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 1 of the ATP7B gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. 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 has not been reported in the literature in individuals affected with ATP7B-related conditions. For these reasons, this variant has been classified as Pathogenic.

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