ClinVar Miner

Submissions for variant NM_001081.3(CUBN):c.4459C>T (p.Arg1487Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000698044 SCV000826685 pathogenic Megaloblastic anemia due to inborn errors of metabolism 2018-02-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1487*) in the CUBN gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs145661597, 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.

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