ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.845del (p.Leu282fs)

dbSNP: rs193922111
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029384 SCV000052032 pathogenic Wilson disease 2011-08-18 criteria provided, single submitter curation Converted during submission to Pathogenic.
Invitae RCV000029384 SCV000752255 pathogenic Wilson disease 2023-11-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu282Profs*2) 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 (rs193922111, gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Wilson disease (PMID: 9311736, 9482578, 11216666, 11243728, 15523622, 18371106, 22308153). ClinVar contains an entry for this variant (Variation ID: 35735). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000029384 SCV001977394 pathogenic Wilson disease 2021-08-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000029384 SCV002776702 pathogenic Wilson disease 2021-12-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV000029384 SCV004216317 pathogenic Wilson disease 2023-09-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV000029384 SCV001453796 pathogenic Wilson disease 2020-09-16 no assertion criteria provided clinical testing

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