ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3036dup (p.Lys1013fs)

dbSNP: rs1555287300
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587819 SCV000694436 likely pathogenic Wilson disease 2016-05-26 criteria provided, single submitter clinical testing Variant summary: The ATP7B c.3036dupC (p.Lys1013Glnfs) variant results in a premature termination codon, predicted to cause a truncated or absent ATP7B protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.3955C>T/R1319X). One in silico tool predicts a damaging outcome for this variant. This variant is absent in 44496 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as likely pathogenic until more information becomes available.
Invitae RCV000587819 SCV001234342 pathogenic Wilson disease 2023-06-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 495410). This premature translational stop signal has been observed in individual(s) with Wilson disease (PMID: 31708252). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys1013Glnfs*15) 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).
Genome-Nilou Lab RCV000587819 SCV001977283 likely pathogenic Wilson disease 2021-08-10 criteria provided, single submitter clinical testing

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