ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3884C>T (p.Ala1295Val) (rs1340942427)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000817111 SCV000957654 pathogenic Wilson disease 2019-07-01 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 1295 of the ATP7B protein (p.Ala1295Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with Wilson disease in individuals and families (PMID: 23843956, 27930511, Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant and has also been observed in the homozygous state. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.

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