ClinVar Miner

Submissions for variant NM_001081.3(CUBN):c.5428C>T (p.Arg1810Ter) (rs143944436)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000705555 SCV000834556 pathogenic Imerslund-Gräsbeck syndrome 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 Imerslund-Gräsbeck syndrome 2017-06-07 no assertion criteria provided curation
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000705555 SCV000863860 likely pathogenic Imerslund-Gräsbeck syndrome 2018-05-09 no assertion criteria provided clinical testing

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