ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3694A>C (p.Thr1232Pro) (rs568009639)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670901 SCV000795814 likely pathogenic Wilson disease 2017-11-17 criteria provided, single submitter clinical testing
Invitae RCV000670901 SCV000956145 pathogenic Wilson disease 2018-08-24 criteria provided, single submitter clinical testing This sequence change replaces threonine with proline at codon 1232 of the ATP7B protein (p.Thr1232Pro). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and proline. This variant is present in population databases (rs568009639, ExAC 0.009%). This variant has been observed in several unrelated individuals affected with Wilson disease (PMID: 15024742, 15952988) and to segregate with disease in one family (PMID: 15337266). 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"). For these reasons, this variant has been classified as Pathogenic.

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