ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3107dup (p.Arg1038fs)

gnomAD frequency: 0.00001  dbSNP: rs886043423
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000329325 SCV000340048 pathogenic not provided 2016-03-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001729508 SCV001977276 pathogenic Wilson disease 2021-08-10 criteria provided, single submitter clinical testing
Invitae RCV001729508 SCV002198503 pathogenic Wilson disease 2024-01-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1038Glnfs*31) in the ATP7B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATP7B are known to be pathogenic (PMID: 10441329, 16283883). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with ATP7B-related conditions. ClinVar contains an entry for this variant (Variation ID: 286564). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001729508 SCV004210675 pathogenic Wilson disease 2022-05-24 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000329325 SCV004226659 likely pathogenic not provided 2023-02-09 criteria provided, single submitter clinical testing PM2, PVS1

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