ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.4195C>T (p.Gln1399Ter)

dbSNP: rs2138407151
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001951049 SCV002238861 pathogenic Wilson disease 2022-10-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the ATP7B protein in which other variant(s) (p.Arg1459Glyfs*2) have been determined to be pathogenic (PMID: 26799313). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 1456240). This variant has not been reported in the literature in individuals affected with ATP7B-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1399*) in the ATP7B gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 67 amino acid(s) of the ATP7B protein.
Baylor Genetics RCV001951049 SCV004216457 likely pathogenic Wilson disease 2023-03-07 criteria provided, single submitter clinical testing

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