ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys) (rs755554442)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169188 SCV000220432 likely pathogenic Wilson disease 2014-06-20 criteria provided, single submitter literature only
Hadassah Hebrew University Medical Center RCV000169188 SCV001572883 likely pathogenic Wilson disease 2019-06-20 criteria provided, single submitter clinical testing
Invitae RCV000169188 SCV001575131 likely pathogenic Wilson disease 2020-10-08 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 1151 of the ATP7B protein (p.Arg1151Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs755554442, ExAC 0.02%). This variant has been observed in many individuals affected with Wilson disease (PMID: 27398169, 17949296, 23333878, 21645214, 23235335, 22484412, 26215059). In one of these individuals, this variant co-occurred with another pathogenic variant in the ATP7B gene (PMID: 27398169). ClinVar contains an entry for this variant (Variation ID: 188839). This variant has been reported to affect ATP7B protein function (PMID: 21645214). This variant disrupts the p.Arg1151 amino acid residue in ATP7B. Other variant(s) that disrupt this residue have been observed in affected individuals (PMID: 27398169, 10544227), which suggests that this may be a clinically significant amino acid residue. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Fulgent Genetics,Fulgent Genetics RCV000169188 SCV001752787 likely pathogenic Wilson disease 2021-06-30 criteria provided, single submitter clinical testing
GeneDx RCV001596981 SCV001830740 likely pathogenic not provided 2020-12-15 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect (Lee et al., 2011); This variant is associated with the following publications: (PMID: 30275481, 32231684, 23333878, 23089210, 21645214, 22484412, 26215059, 24253677, 17949296, 22692182)

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