ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.331C>T (p.Gln111Ter)

gnomAD frequency: 0.00001  dbSNP: rs774221179
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169259 SCV000220548 likely pathogenic Wilson disease 2014-07-24 criteria provided, single submitter literature only
Invitae RCV000169259 SCV002228126 pathogenic Wilson disease 2023-07-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 188899). This premature translational stop signal has been observed in individual(s) with clinical features of Wilson disease (PMID: 9671269, 15952988, 31708252). This variant is present in population databases (rs774221179, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Gln111*) 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).
Baylor Genetics RCV000169259 SCV004210688 pathogenic Wilson disease 2022-02-02 criteria provided, single submitter clinical testing

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