ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1186G>T (p.Glu396Ter)

dbSNP: rs763051801
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001384612 SCV001584179 pathogenic Wilson disease 2020-09-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu396*) in the ATP7B gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in the homozygous state in individual(s) with Wilson's disease (PMID: 18483695). Loss-of-function variants in ATP7B are known to be pathogenic (PMID: 10441329, 16283883). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV001384612 SCV001977380 pathogenic Wilson disease 2021-08-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV001384612 SCV004216365 pathogenic Wilson disease 2023-08-08 criteria provided, single submitter clinical testing

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