ClinVar Miner

Submissions for variant NM_001081.3(CUBN):c.7906C>T (p.Arg2636Ter) (rs137998687)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000690027 SCV000817703 pathogenic Imerslund-Gräsbeck syndrome 2018-09-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2636*) in the CUBN gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs137998687, ExAC 0.01%). This variant has not been reported in the literature in individuals with CUBN-related disease. Loss-of-function variants in CUBN are known to be pathogenic (PMID: 15024727, 22929189). For these reasons, this variant has been classified as Pathogenic.
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000690027 SCV000999834 pathogenic Imerslund-Gräsbeck syndrome 2019-03-18 criteria provided, single submitter clinical testing This variant was identified in combination with a second variant in trans in the same gene (CUBN - composite heterozygosity) in a patient with proteinuria and glomerulopathy

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