ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3766_3767dup (p.Gln1256fs)

dbSNP: rs1957048711
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001285051 SCV001977235 pathogenic Wilson disease 2021-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001285051 SCV003442221 pathogenic Wilson disease 2022-10-25 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with Wilson disease (PMID: 25704634, 27022412, 34240825). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 993505). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1256Hisfs*75) 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).
Baylor Genetics RCV001285051 SCV004216356 pathogenic Wilson disease 2023-08-18 criteria provided, single submitter clinical testing

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