ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3733C>G (p.Pro1245Ala)

dbSNP: rs587783316
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671946 SCV000796990 uncertain significance Wilson disease 2018-01-08 criteria provided, single submitter clinical testing
Invitae RCV000671946 SCV003442152 uncertain significance Wilson disease 2022-04-18 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 1245 of the ATP7B protein (p.Pro1245Ala). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Wilson disease (PMID: 27022412, 34470610). ClinVar contains an entry for this variant (Variation ID: 556009). 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.

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