ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs) (rs753962912)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169524 SCV000221001 likely pathogenic Wilson disease 2014-12-31 criteria provided, single submitter literature only
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726071 SCV000341737 pathogenic not provided 2016-04-28 criteria provided, single submitter clinical testing
Invitae RCV000169524 SCV000931649 pathogenic Wilson disease 2020-08-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile582Argfs*25) in the ATP7B gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs753962912, ExAC 0.004%). This variant has been observed in individuals affected with Wilson disease (PMID: 23518715, 17317524, 27398169, 17949296). ClinVar contains an entry for this variant (Variation ID: 189112). Loss-of-function variants in ATP7B are known to be pathogenic (PMID: 10441329, 16283883). For these reasons, this variant has been classified as Pathogenic.
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit,IRCCS Fondazione Stella Maris RCV001640260 SCV001519282 pathogenic Spastic ataxia 2021-07-12 criteria provided, single submitter research
Mayo Clinic Laboratories, Mayo Clinic RCV000726071 SCV001714457 pathogenic not provided 2020-12-04 criteria provided, single submitter clinical testing PVS1, PS4_moderate, PM2, PP4

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