ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.283C>T (p.Gln95Ter) (rs756929892)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001014 SCV001158122 pathogenic Wilson disease 2019-01-17 criteria provided, single submitter clinical testing The ATP7B c.283C>T; p.Gln95Ter variant (rs756929892) has been described in individuals affected with Wilson disease (WD; Loudianos 1996). It is observed in the general population at a low overall frequency of 0.001% (3/249316 alleles) in the Genome Aggregation Database. This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Additionally, several downstream truncating variants have been described in association with WD and are considered pathogenic (see link to University of Alberta database and references therein). Based on available information, the p.Gln95Ter variant is considered pathogenic. REFERENCES University of Alberta database link: http://www.wilsondisease.med.ualberta.ca/search3.asp?a=a Loudianos G et al. Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients. Hum Genet. 1996 Dec;98(6):640-2.

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