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 uncertain significance Wilson disease 2018-10-16 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 an individual affected with Wilson disease (PMID: 17154398). 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 available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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