ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1372G>T (p.Glu458Ter)

dbSNP: rs1057516305
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409337 SCV000485445 likely pathogenic Wilson disease 2015-12-15 criteria provided, single submitter clinical testing
Invitae RCV000409337 SCV002190285 pathogenic Wilson disease 2021-04-29 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with ATP7B-related conditions. ClinVar contains an entry for this variant (Variation ID: 370196). This sequence change creates a premature translational stop signal (p.Glu458*) in the ATP7B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATP7B are known to be pathogenic (PMID: 10441329, 16283883).

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