ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3061-549_3081del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001068581 SCV001233702 pathogenic Wilson disease 2019-02-08 criteria provided, single submitter clinical testing This variant is a deletion of the genomic region encompassing part of exon 14 (c.3061-549_3081del) of the ATP7B gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with ATP7B-related conditions. This variant disrupts the p.Asp1027His amino acid residue in ATP7B. Other variant(s) that disrupt this residue have been observed in individuals with ATP7B-related conditions (PMID: 29321352, http://waset.org/publications/10006441, Invitae), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. Loss-of-function variants in ATP7B are known to be pathogenic (PMID: 10441329, 16283883). For these reasons, this variant has been classified as Pathogenic.

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