ClinVar Miner

Submissions for variant NM_001081.3(CUBN):c.6928_6934del (p.Glu2310fs) (rs757649673)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000169656 SCV000829160 pathogenic Megaloblastic anemia due to inborn errors of metabolism 2018-08-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu2310Cysfs*3) in the CUBN gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs757649673, ExAC 0.03%). This variant has not been reported in the literature in individuals with CUBN-related disease. ClinVar contains an entry for this variant (Variation ID: 189227). Loss-of-function variants in CUBN are known to be pathogenic (PMID: 15024727, 22929189). For these reasons, this variant has been classified as Pathogenic.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000169656 SCV000221183 pathogenic Megaloblastic anemia due to inborn errors of metabolism 2014-12-15 criteria provided, single submitter clinical testing The Glu2310CysfsX3 variant is predicted to alter the protein’s amino acid sequence beginning at position 2310 and lead to a premature termination codon 3 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. In summary, this variant meets our criteria for pathogenicity.

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