ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.213_214del (p.Val73fs) (rs1445951068)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000802352 SCV000942178 pathogenic Wilson disease 2018-09-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val73Glufs*4) in the ATP7B gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with Wilson disease (PMID: 8533760). This variant is also known as 214delAT in the literature. 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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