ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2549C>T (p.Thr850Ile) (rs777629392)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670079 SCV000794895 likely pathogenic Wilson disease 2017-10-18 criteria provided, single submitter clinical testing
Invitae RCV000670079 SCV001201648 pathogenic Wilson disease 2020-10-19 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 850 of the ATP7B protein (p.Thr850Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs777629392, ExAC 0.01%). This variant has been observed in combination with another ATP7B variant in several individuals affected with Wilson disease (PMID: 21034864, 27398169, 29321352). ClinVar contains an entry for this variant (Variation ID: 554444). 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: Benign; Align-GVGD: Class C1). For these reasons, this variant has been classified as Pathogenic. 5
Mayo Clinic Laboratories, Mayo Clinic RCV001509442 SCV001716164 likely pathogenic not provided 2020-01-20 criteria provided, single submitter clinical testing PS4_moderate, PM2, PP4, PP1

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