ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2145del (p.Phe714_Tyr715insTer) (rs1593726648)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000816946 SCV000957476 pathogenic Wilson disease 2018-09-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr715*) 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). A different variant (c.2145C>A) giving rise to the same protein effect observed here (p.Tyr715*) has been observed in combination with another ATP7B variant in individuals affected with Wilson disease (PMID: 24475083). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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