ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2797A>C (p.Thr933Pro)

gnomAD frequency: 0.00001  dbSNP: rs1555288410
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668408 SCV000793002 uncertain significance Wilson disease 2017-08-04 criteria provided, single submitter clinical testing
Invitae RCV000668408 SCV001494330 uncertain significance Wilson disease 2021-08-29 criteria provided, single submitter clinical testing This sequence change replaces threonine with proline at codon 933 of the ATP7B protein (p.Thr933Pro). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and proline. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with Wilson disease (PMID: 9671269, 23518715; Invitae). ClinVar contains an entry for this variant (Variation ID: 553038). 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"). 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.
Genome-Nilou Lab RCV000668408 SCV002027164 uncertain significance Wilson disease 2021-09-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000668408 SCV002780696 uncertain significance Wilson disease 2022-04-02 criteria provided, single submitter clinical testing

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