ClinVar Miner

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

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Total submissions: 5
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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.
Fulgent Genetics,Fulgent Genetics RCV001536070 SCV001752767 likely pathogenic Imerslund-Gräsbeck syndrome 1; Proteinuria, chronic benign 2021-06-30 criteria provided, single submitter clinical testing
GeneDx RCV001547777 SCV001767560 likely pathogenic not provided 2020-11-03 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 31613795, 25635822)
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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