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

Total submissions: 5

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