ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3529C>T (p.Gln1177Ter)

dbSNP: rs1057516479
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412086 SCV000485748 likely pathogenic Wilson disease 2016-02-08 criteria provided, single submitter clinical testing
Invitae RCV000412086 SCV001391820 pathogenic Wilson disease 2020-07-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1177*) 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 not been reported in the literature in individuals with ATP7B-related conditions. ClinVar contains an entry for this variant (Variation ID: 370427). Loss-of-function variants in ATP7B are known to be pathogenic (PMID: 10441329, 16283883). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV001531799 SCV001747085 pathogenic not provided 2021-06-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000412086 SCV001977250 pathogenic Wilson disease 2021-08-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV000412086 SCV004216370 likely pathogenic Wilson disease 2023-07-29 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001531799 SCV004226648 likely pathogenic not provided 2022-10-21 criteria provided, single submitter clinical testing PM2, PVS1

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