ClinVar Miner

Submissions for variant NM_001081.3(CUBN):c.5428C>T (p.Arg1810Ter)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000705555 SCV000863860 likely pathogenic Megaloblastic anemia due to inborn errors of metabolism 2018-05-09 no assertion criteria provided clinical testing
Invitae RCV000705555 SCV000834556 pathogenic Megaloblastic anemia due to inborn errors of metabolism 2018-06-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1810*) in the CUBN gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs143944436, ExAC 0.03%). 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.
SingHealth Duke-NUS Institute of Precision Medicine RCV000705555 SCV000853127 likely pathogenic Megaloblastic anemia due to inborn errors of metabolism 2017-06-07 no assertion criteria provided curation

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