ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val) (rs371840514)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169019 SCV000220164 likely pathogenic Wilson disease 2014-03-17 criteria provided, single submitter literature only
Invitae RCV000169019 SCV000948175 likely pathogenic Wilson disease 2019-11-29 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 1018 of the ATP7B protein (p.Ala1018Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs371840514, ExAC 0.01%). This variant has been observed in individual(s) with Wilson disease (PMID: 17154398, 30884209, 31059521, Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 188722). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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