ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2157del (p.Ala718_Tyr719insTer)

dbSNP: rs1958506321
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001036016 SCV001199359 pathogenic Wilson disease 2020-03-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 with ATP7B-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr719*) in the ATP7B gene. It is expected to result in an absent or disrupted protein product.
Genome-Nilou Lab RCV001036016 SCV001977343 pathogenic Wilson disease 2021-08-10 criteria provided, single submitter clinical testing

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