ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val) (rs587783309)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145270 SCV000192340 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Counsyl RCV000675167 SCV000800787 likely pathogenic Wilson disease 2017-09-08 criteria provided, single submitter clinical testing
Invitae RCV000675167 SCV001583736 pathogenic Wilson disease 2020-09-19 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 1063 of the ATP7B protein (p.Ala1063Val). 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 in individual(s) with Wilson disease (PMID: 20517649, 23518715, 10544227). ClinVar contains an entry for this variant (Variation ID: 157945). 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001508710 SCV001715045 uncertain significance not provided 2020-10-19 criteria provided, single submitter clinical testing

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