ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2122-8T>G

gnomAD frequency: 0.00001  dbSNP: rs193922102
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Total submissions: 5
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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 RCV000029354 SCV000052001 likely pathogenic Wilson disease 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Genetic Services Laboratory,University of Chicago RCV000029354 SCV000192318 pathogenic Wilson disease 2013-02-08 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories,Mayo Clinic RCV001508345 SCV001714448 pathogenic not provided 2020-11-12 criteria provided, single submitter clinical testing PVS1_strong, PS4_moderate, PM2, PM3
Invitae RCV000029354 SCV002206158 pathogenic Wilson disease 2021-09-17 criteria provided, single submitter clinical testing
GeneDx RCV001508345 SCV002574663 likely pathogenic not provided 2022-09-01 criteria provided, single submitter clinical testing Functional studies by RT-PCR analysis demonstrated the c.2122-8 T>G variant results in the prevalent production of a transcript with the in-frame deletion of exon 8 (Loudianos et al., 2002); Not observed in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; This variant is associated with the following publications: (PMID: 25525159, 18728530, 11076401, 12325021, 34400371, 20967755)

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