ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3766C>T (p.Gln1256Ter)

gnomAD frequency: 0.00001  dbSNP: rs1957048901
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Research Unit for Rare Diseases, 1st Faculty of Medicine, Charles University in Prague RCV001267645 SCV001443817 pathogenic Wilson disease criteria provided, single submitter research The NM_000053.4:c.3766C>T (p.Gln1256*) variant in ATP7B has been reported in one patient with Wilson disease in trans position with a variant NM_000053.4:c.2304dup (p.Met769fs).
Genome-Nilou Lab RCV001267645 SCV001977236 pathogenic Wilson disease 2021-08-10 criteria provided, single submitter clinical testing

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