ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter) (rs193922110)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029378 SCV000052026 likely pathogenic Wilson disease 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Counsyl RCV000029378 SCV000220454 likely pathogenic Wilson disease 2014-06-25 criteria provided, single submitter literature only
CeGaT Praxis fuer Humangenetik Tuebingen RCV000415977 SCV000493528 likely pathogenic not provided 2016-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000415977 SCV000748221 likely pathogenic not provided 2018-04-04 criteria provided, single submitter clinical testing The W1353X variant in the ATP7B gene has been reported previously in association with Wilson disease, however it was identified in a single allele among a cohort of unrelated affected patients without information about zygosity (Curtis et al., 1999). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The W1353X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret W1353X as a likely pathogenic variant.
Invitae RCV000029378 SCV000836786 pathogenic Wilson disease 2018-05-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp1353*) in the ATP7B gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs193922110, ExAC 0.002%). This variant has been observed in an individual affected with Wilson disease (PMID: 10502777). ClinVar contains an entry for this variant (Variation ID: 35729). Loss-of-function variants in ATP7B are known to be pathogenic (PMID: 10441329, 16283883). For these reasons, this variant has been classified as Pathogenic.

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